Carissa A. Park G. Thomas Hayman Mahima Vedi Stanley J. F. Laulederkind 2026-09-26 --RGD OBO FILE GENERATOR -- build 2026-07-29 -- 26:09:2026 20:13 rgd_disease_ontology 1.2 rgd In January of 2018, RGD transitioned from use of the Comparative Toxicogenomics Database's "MEDIC" vocabulary, based on a combination of the Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) disease vocabularies, to the use of the Human Disease Ontology (DO, see http://bioportal.bioontology.org/ontologies/DOID) as the basis of the disease ontology in use at RGD. As found on the RGD website and in RGD's ftp files, the DO has been supplemented with additional terms needed for curation at RGD to form the "RGD Disease Ontology (RDO)". An up-to-date copy of this ontology file is generated automatically from the RGD database and posted to the RGD ftp site at ftp://ftp.rgd.mcw.edu/pub/ontology/disease/ on a daily basis. Ontologies with ids in the format "DOID:9xxxxxx" have been added by RGD curators. Wherever possible, DOIDs have been mapped to the previous RDO IDs and RDO IDs (i.e. RDO:xxxxxxx IDs) appear as alternate IDs for the existing terms. definition RGD_JBrowse_slim subset_property has_alternative_id has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym in_subset A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO) vascular sarcoma EFO:0003967 EFO:0003968 ICDO:9120/3 MESH:D006394 MONDO:0016982 NCI:C122783 NCI:C24016 NCI:C3088 NCI:C9275 ORDO:263413 angiosarcomas hemangiosarcoma hemangiosarcomas rgd_disease_ontology DOID:0001816 angiosarcoma A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO) PMID:23327728 http://en.wikipedia.org/wiki/Hemangiosarcoma https://en.wikipedia.org/wiki/Angiosarcoma https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO) EFO:0000678 MESH:D011625 NCI:C133744 pterygiums surfer's eye rgd_disease_ontology DOID:0002116 pterygium A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO) https://en.wikipedia.org/wiki/Pterygium_(conjunctiva) A disease that involves errors in metabolic processes of building or degradation of molecules. (DO) EFO:0000589 EFO:0011054 ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 MONDO:0005066 NCI:C3235 metabolic disease metabolic diseases thesaurismoses thesaurismosis metabolic toxicity rgd_disease_ontology DOID:0014667 disease of metabolism A disease that involves errors in metabolic processes of building or degradation of molecules. (DO) http://www.ncbi.nlm.nih.gov/books/NBK22259/ A crustacean allergy that has_allergic_trigger shrimp. (DO) rgd_disease_ontology DOID:0040001 shrimp allergy A crustacean allergy that has_allergic_trigger shrimp. (DO) PMID:20471069 A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO) ASA allergy acetylsalicylic acid allergy rgd_disease_ontology DOID:0040002 aspirin allergy A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO) PMID:2468301 A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO) benzyl penicillin allergy penicillin G allergy rgd_disease_ontology DOID:0040003 benzylpenicillin allergy A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO) PMID:14483916 A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO) rgd_disease_ontology DOID:0040004 amoxicillin allergy A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO) PMID:11746950 A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO) rocephin allergy rgd_disease_ontology DOID:0040005 ceftriaxone allergy A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO) PMID:12833570 A drug allergy that has_allergic_trigger carbamazepine. (DO) carbamazepen allergy tegretol allergy rgd_disease_ontology DOID:0040006 carbamazepine allergy A drug allergy that has_allergic_trigger carbamazepine. (DO) PMID:7602118 A drug allergy that has_allergic_trigger abacavir. (DO) DOID:9007813 MIM:142830 ABC allergy abacavir hypersensitivity rgd_disease_ontology abacavir hypersensitivity, susceptibility to DOID:0040007 abacavir allergy A drug allergy that has_allergic_trigger abacavir. (DO) PMID:25674793 A drug allergy that has_allergic_trigger isoniazide. (DO) ICD10CM:Z88.1 INH allergy isonicotinylhydrazide allergy rgd_disease_ontology DOID:0040008 isoniazide allergy A drug allergy that has_allergic_trigger isoniazide. (DO) PMID:445303 A drug allergy that has_allergic_trigger lidocaine. (DO) lidoderm allergy lignocaine allergy xylocaine allergy rgd_disease_ontology DOID:0040009 lidocaine allergy A drug allergy that has_allergic_trigger lidocaine. (DO) PMID:9013953 A drug allergy that has_allergic_trigger mepivacaine. (DO) ICD10CM:Z88.4 carbocaine allergy polocaine allergy rgd_disease_ontology DOID:0040010 mepivacaine allergy A drug allergy that has_allergic_trigger mepivacaine. (DO) PMID:9989796 A drug allergy that has_allergic_trigger phenobarbital. (DO) luminal allergy phenobarbitol allergy phenobarbitone allergy rgd_disease_ontology DOID:0040011 phenobarbital allergy A drug allergy that has_allergic_trigger phenobarbital. (DO) PMID:11994495 A drug allergy that has_allergic_trigger phenytoin. (DO) dilantin allergy rgd_disease_ontology DOID:0040012 phenytoin allergy A drug allergy that has_allergic_trigger phenytoin. (DO) PMID:7602118 A drug allergy that has_allergic_trigger ranitidine. (DO) zantac allergy rgd_disease_ontology DOID:0040013 ranitidine allergy A drug allergy that has_allergic_trigger ranitidine. (DO) PMID:7782125 A drug allergy that has_allergic_trigger corticosteroid. (DO) rgd_disease_ontology DOID:0040014 corticosteroid allergy A drug allergy that has_allergic_trigger corticosteroid. (DO) PMID:2265088 A drug allergy that has_allergic_trigger sulfonamide. (DO) ICD10CM:Z88.9 rgd_disease_ontology DOID:0040015 sulfonamide allergy A drug allergy that has_allergic_trigger sulfonamide. (DO) PMID:2434548 A drug allergy that has_allergic_trigger sulfamethoxazole. (DO) SMX allergy SMZ allergy sulphamethoxazole allergy rgd_disease_ontology DOID:0040016 sulfamethoxazole allergy A drug allergy that has_allergic_trigger sulfamethoxazole. (DO) PMID:7602118 A drug allergy that has_allergic_trigger suprofen. (DO) Profenal allergy rgd_disease_ontology DOID:0040017 suprofen allergy A drug allergy that has_allergic_trigger suprofen. (DO) PMID:509935 A drug allergy that has_allergic_trigger thiopental. (DO) penthiobarbital allergy pentothiobarbital allergy rgd_disease_ontology DOID:0040018 thiopental allergy A drug allergy that has_allergic_trigger thiopental. (DO) PMID:2215478 A drug allergy that has_allergic_trigger D-mannitol. (DO) mannitol allergy rgd_disease_ontology DOID:0040019 D-mannitol allergy A drug allergy that has_allergic_trigger D-mannitol. (DO) PMID:15479277 A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO) rgd_disease_ontology DOID:0040020 cefotaxime allergy A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO) PMID:12833570 A drug allergy that has_allergic_trigger cephalosporin. (DO) rgd_disease_ontology DOID:0040021 cephalosporin allergy A drug allergy that has_allergic_trigger cephalosporin. (DO) PMID:2083978 A drug allergy that has_allergic_trigger amodiaquine. (DO) Camoquin allergy Flavoquine allergy rgd_disease_ontology DOID:0040022 amodiaquine allergy A drug allergy that has_allergic_trigger amodiaquine. (DO) PMID:1959977 A cephalosporin allergy that has_allergic_trigger cefaclor. (DO) ceclor allergy cephaclor allergy rgd_disease_ontology DOID:0040023 cefaclor allergy A cephalosporin allergy that has_allergic_trigger cefaclor. (DO) PMID:12569987 A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO) Fortaz allergy Tazicef allergy rgd_disease_ontology DOID:0040024 ceftazidime allergy A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO) PMID:12833570 A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO) Zinacef allergy cephuroxime allergy rgd_disease_ontology DOID:0040025 cefuroxime allergy A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO) PMID:12833570 A drug allergy that has_allergic_trigger chlorhexidine. (DO) rgd_disease_ontology DOID:0040026 chlorhexidine allergy A drug allergy that has_allergic_trigger chlorhexidine. (DO) PMID:10848923 A drug allergy that has_allergic_trigger cyclophosphamide. (DO) cytophosphane allergy rgd_disease_ontology DOID:0040027 cyclophosphamide allergy A drug allergy that has_allergic_trigger cyclophosphamide. (DO) PMID:8024619 A drug allergy that has_allergic_trigger succinylcholine. (DO) dicholine succinate allergy succinocholine allergy sux allergy suxamethonium allergy rgd_disease_ontology DOID:0040028 succinylcholine allergy A drug allergy that has_allergic_trigger succinylcholine. (DO) PMID:2410473 A drug allergy that has_allergic_trigger trimethoprim. (DO) Primsol allergy TMP allergy proloprim allergy rgd_disease_ontology DOID:0040029 trimethoprim allergy A drug allergy that has_allergic_trigger trimethoprim. (DO) PMID:3377143 A cephalosporin allergy that has_allergic_trigger cefixime. (DO) rgd_disease_ontology DOID:0040030 cefixime allergy A cephalosporin allergy that has_allergic_trigger cefixime. (DO) PMID:16867046 A drug allergy that has_allergic_trigger diclofenac. (DO) Voltaren allergy rgd_disease_ontology DOID:0040031 diclofenac allergy A drug allergy that has_allergic_trigger diclofenac. (DO) PMID:21060839 A drug allergy that has_allergic_trigger carbapenems. (DO) rgd_disease_ontology DOID:0040032 carbapenem allergy A drug allergy that has_allergic_trigger carbapenems. (DO) PMID:2457043 A beta-lactam allergy that has_allergic_trigger piperacillin. (DO) rgd_disease_ontology DOID:0040033 piperacillin allergy A beta-lactam allergy that has_allergic_trigger piperacillin. (DO) PMID:21532862 A drug allergy that has_allergic_trigger rocuronium. (DO) Esmeron allergy Zemuron allergy rgd_disease_ontology DOID:0040034 rocuronium allergy A drug allergy that has_allergic_trigger rocuronium. (DO) PMID:17667569 A drug allergy that has_allergic_trigger sulfasalazine. (DO) rgd_disease_ontology DOID:0040035 sulfasalazine allergy A drug allergy that has_allergic_trigger sulfasalazine. (DO) PMID:2434548 A drug allergy that has_allergic_trigger tubocurarine. (DO) DTC allergy rgd_disease_ontology DOID:0040036 tubocurarine allergy A drug allergy that has_allergic_trigger tubocurarine. (DO) PMID:2215478 A beta-lactam allergy that has_allergic_trigger aztreonam. (DO) Azactam allergy Primbactam allergy rgd_disease_ontology DOID:0040037 aztreonam allergy A beta-lactam allergy that has_allergic_trigger aztreonam. (DO) PMID:1991925 An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO) Merrem allergy rgd_disease_ontology DOID:0040038 meropenem allergy An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO) PMID:23668298 An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO) allergic asthma to HDI allergic asthma to HMDI rgd_disease_ontology DOID:0040040 hexamethylene diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO) PMID:8711735 An allergic asthma that has_allergic_trigger isocyanates. (DO) rgd_disease_ontology DOID:0040041 isocyanates allergic asthma An allergic asthma that has_allergic_trigger isocyanates. (DO) PMID:3349596 An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO) allergic asthma to MDI rgd_disease_ontology DOID:0040042 diphenylmethane-4,4'-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO) PMID:8711735 An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO) allergic asthma to TDI rgd_disease_ontology DOID:0040043 toluene meta-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO) PMID:11289402 An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO) allergic asthma to MIC rgd_disease_ontology DOID:0040044 methyl isocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO) PMID:3622432 An allergic asthma that has_allergic_trigger nickel atom. (DO) allergic asthma to Ni rgd_disease_ontology DOID:0040045 nickel allergic asthma An allergic asthma that has_allergic_trigger nickel atom. (DO) PMID:6691936 An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO) EFO:0005320 ICD10CM:L23.0 allergic contact dermatitis to Ni contact dermatitis due to nickel rgd_disease_ontology DOID:0040046 nickel allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO) PMID:7671317 An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO) allergic asthma to TMA rgd_disease_ontology DOID:0040047 trimellitic anhydride allergic asthma An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO) PMID:6643876 An allergic asthma that has_allergic_trigger phthalic anhydride. (DO) rgd_disease_ontology DOID:0040048 phthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger phthalic anhydride. (DO) PMID:3711550 An allergic asthma that has_allergic_trigger maleic anhydride. (DO) allergic asthma to MA rgd_disease_ontology DOID:0040049 maleic anhydride allergic asthma An allergic asthma that has_allergic_trigger maleic anhydride. (DO) PMID:3711550 An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO) rgd_disease_ontology DOID:0040050 tetrachlorophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO) PMID:3711550 An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO) allergic asthma to HHPA rgd_disease_ontology DOID:0040051 hexahydrophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO) PMID:4008795 An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO) allergic contact dermatitis to MDI rgd_disease_ontology DOID:0040052 diphenylmethane-4,4'-diisocyanate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO) PMID:6296214 An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO) allergic contact dermatitis to Co rgd_disease_ontology DOID:0040053 cobalt allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO) PMID:8566016 An allergic asthma that has_allergic_trigger cobalt atom. (DO) Co allergic asthma rgd_disease_ontology DOID:0040054 cobalt allergic asthma An allergic asthma that has_allergic_trigger cobalt atom. (DO) PMID:7444839 An allergic contact dermatitis that has_allergic_trigger palladium. (DO) allergic contact dermatitis to Pd rgd_disease_ontology DOID:0040055 palladium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger palladium. (DO) PMID:25097477 An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO) rgd_disease_ontology DOID:0040056 chromium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO) PMID:1108802 An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO) allergic contact dermatitis to benzoate rgd_disease_ontology DOID:0040057 benzoic acid allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO) PMID:25097477 An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO) allergic contact dermatitis to PPD allergic contact dermatitis to p-phenylenediamine rgd_disease_ontology DOID:0040058 1,4-phenylenediamine allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO) PMID:8400900 An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO) rgd_disease_ontology DOID:0040059 potassium dichromate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO) PMID:15462465 A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO) photoallergic dermatitis to orudis rgd_disease_ontology DOID:0040060 ketoprofen photoallergic dermatitis A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO) PMID:11169173 A respiratory allergy that has_allergic_trigger remazole black-GR. (DO) respiratory allergy to Reactive Black 5 rgd_disease_ontology DOID:0040061 remazole black respiratory allergy A respiratory allergy that has_allergic_trigger remazole black-GR. (DO) PMID:2312995 A respiratory allergy that has_allergic_trigger chloramine T. (DO) respiratory allergy to Chloraseptin respiratory allergy to Chlorazol respiratory allergy to Trichlorol rgd_disease_ontology DOID:0040062 chloramine T respiratory allergy A respiratory allergy that has_allergic_trigger chloramine T. (DO) PMID:2758361 A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO) respiratory allergy to vinyl cyclohexene diepoxide rgd_disease_ontology DOID:0040063 4-vinylcyclohexene dioxide respiratory allergy A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO) PMID:3356477 An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO) allergic contact dermatitis to levo-carvone rgd_disease_ontology DOID:0040064 carvone allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO) PMID:11380545 A drug allergy that has_allergic_trigger quinidine. (DO) Kinidin allergy rgd_disease_ontology DOID:0040065 quinidine allergy A drug allergy that has_allergic_trigger quinidine. (DO) PMID:445303 A drug allergy that has_allergic_trigger melphalan. (DO) Alkeran allergy rgd_disease_ontology DOID:0040066 melphalan allergy A drug allergy that has_allergic_trigger melphalan. (DO) PMID:445303 An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO) allergic contact dermatitis to neomycin sulphate rgd_disease_ontology DOID:0040067 neomycin sulfate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO) PMID:21616561 An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO) allergic contact dermatitis to PTBP allergic contact dermatitis to butylphen rgd_disease_ontology DOID:0040068 4-tert-butylphenol allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO) PMID:8462290 An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO) allergic contact dermatitis to DNCB allergic contact dermatitis to dinitrochlorobenzene rgd_disease_ontology DOID:0040069 1-chloro-2,4-dinitrobenzene allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO) PMID:17008874 A drug allergy that has_allergic_trigger co-trimoxazole. (DO) Bactrim allergy TMP/SMX allergy cotrimoxazol allergy trimethoprim/sulfamethoxazole allergy rgd_disease_ontology DOID:0040070 co-trimoxazole allergy A drug allergy that has_allergic_trigger co-trimoxazole. (DO) PMID:445303 A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO) rgd 2016-06-14T12:24:56Z gold sodium thiomalate allergy rgd_disease_ontology DOID:0040071 sodium aurothiomalate allergy A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO) PMID:445303 An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO) allergic contact dermatitis to feverfew rgd_disease_ontology DOID:0040072 parthenolide allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO) PMID:17986299 A drug allergy that has_allergic_trigger disodium cromoglycate. (DO) DSCG allergy rgd_disease_ontology DOID:0040073 disodium cromoglycate allergy A drug allergy that has_allergic_trigger disodium cromoglycate. (DO) PMID:3128591 An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO) allergic contact dermatitis to formalin rgd_disease_ontology DOID:0040074 formaldehyde allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO) PMID:7902023 An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO) allergic contact dermatitis to BIT allergic contact dermatitis to benzisothiazolone rgd_disease_ontology DOID:0040075 benzo[d]isothiazol-3-one allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO) PMID:6446435 A drug allergy that has_allergic_trigger phthalyl group. (DO) phthalyl allergy rgd_disease_ontology DOID:0040076 phthalyl group allergy A drug allergy that has_allergic_trigger phthalyl group. (DO) PMID:7400667 A drug allergy that has_allergic_trigger alcuronium bromide. (DO) rgd_disease_ontology DOID:0040077 alcuronium bromide allergy A drug allergy that has_allergic_trigger alcuronium bromide. (DO) PMID:2215478 A drug allergy that has_allergic_trigger gallamine. (DO) rgd_disease_ontology DOID:0040078 gallamine allergy A drug allergy that has_allergic_trigger gallamine. (DO) PMID:2215478 An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO) allergic contact dermatitis to DNP rgd_disease_ontology DOID:0040079 2,4-dinitrophenyl allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO) PMID:17008874 A drug allergy that has_allergic_trigger patent blue V. (DO) rgd_disease_ontology DOID:0040080 patent blue V allergy A drug allergy that has_allergic_trigger patent blue V. (DO) PMID:19804438 A respiratory allergy that has_allergic_trigger acid anhydride. (DO) rgd_disease_ontology DOID:0040081 acid anhydride respiratory allergy A respiratory allergy that has_allergic_trigger acid anhydride. (DO) PMID:6643876 A drug allergy that has_allergic_trigger oxirane. (DO) ETO allergy ethylene oxide allergy rgd_disease_ontology DOID:0040082 oxirane allergy A drug allergy that has_allergic_trigger oxirane. (DO) PMID:3932500 A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO) ICD10CM:J16.0 ICD9CM:483.1 MESH:D061387 Chlamydial Pneumonia Chlamydial Pneumonias chlamydophila pneumonia chlamydophila pneumonias rgd_disease_ontology DOID:0040083 Chlamydia pneumonia A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO) PMID:16831205 A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO) EFO:0007499 ICD10CM:J13 ICD9CM:481 rgd_disease_ontology DOID:0040084 Streptococcus pneumonia A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO) PMID:26396191 A bacterial infectious disease has_material_basis_in Bacteria. (DO) ICD9CM:995.91 rgd_disease_ontology DOID:0040085 bacterial sepsis A bacterial infectious disease has_material_basis_in Bacteria. (DO) PMID:20421654 A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis). (DO) PVAN rgd_disease_ontology DOID:0040086 polyomavirus-associated nephropathy A viral infectious disease has_material_basis_in BK polyomavirus (Betapolyomavirus hominis). (DO) PMID:16537617 An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO) rgd_disease_ontology DOID:0040087 autoimmune peripheral neuropathy An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO) PMID:7693874 An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO) MONDO:0031012 rgd_disease_ontology DOID:0040088 autoimmune uveitis An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO) PMID:12938234 An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO) rgd_disease_ontology DOID:0040089 autoimmune optic neuritis An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO) PMID:7516573 An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO) rgd_disease_ontology DOID:0040090 autoimmune gastritis An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO) PMID:12645953 An autoimmune disease of endocrine system that is located_in the pancreas. (DO) EFO:1000780 MESH:D000081012 ORDO:103919 Idiopathic Duct-centric Pancreatitis IgG4-related Pancreatitis Type 1 Autoimmune Pancreatitis Type 2 Autoimmune Pancreatitis type 1 AIP type 2 AIP rgd_disease_ontology DOID:0040091 autoimmune pancreatitis An autoimmune disease of endocrine system that is located_in the pancreas. (DO) PMID:19940298 An ankylosing spondylitis with onset during childhood. (DO) ICD10CM:M08.1 MONDO:0020655 NCI:C197919 rgd_disease_ontology DOID:0040092 juvenile ankylosing spondylitis An ankylosing spondylitis with onset during childhood. (DO) PMID:7541736 A lupus erythematosus caused by chronic use of certain drugs. (DO) ICD10CM:M32.0 MESH:C000730515 MONDO:0016474 NCI:C114354 ORDO:231111 DIL DILE rgd_disease_ontology DOID:0040093 drug-induced lupus erythematosus A lupus erythematosus caused by chronic use of certain drugs. (DO) PMID:1378852 An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO) rgd_disease_ontology DOID:0040094 autoimmune glomerulonephritis An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO) PMID:8809141 An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO) rgd_disease_ontology DOID:0040095 autoimmune cardiomyopathy An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO) PMID:10762456 An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO) rgd_disease_ontology DOID:0040096 autoimmune atherosclerosis An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO) PMID:17097662 An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO) rgd_disease_ontology DOID:0040097 autoimmune vasculitis An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO) PMID:23549081 A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO) EFO:1000709 ICD10CM:O26.4 rgd_disease_ontology DOID:0040098 pemphigus gestationis A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO) PMID:16552711 A vasculitis with purpuric ulcers. (DO) ICD10CM:L95.0 MESH:D000090122 ORDO:542643 Idiopathic Atrophic Blanche Livedo Vasculitis White Atrophy livedo reticularis with summer ulceration livedoid vasculopathy rgd_disease_ontology DOID:0040099 livedoid vasculitis A vasculitis with purpuric ulcers. (DO) PMID:10925314 An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO) insulin autoimmune syndrome rgd_disease_ontology DOID:0040100 Hirata disease An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO) PMID:10445096 An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO) rgd_disease_ontology neoprene allergy DOID:0040101 N,N'-diphenylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO) PMID:28295200 An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO) rgd 2018-06-20T00:00:00Z rgd_disease_ontology neoprene allergy DOID:0040102 N,N'-diethylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO) PMID:28295200 A cephalosporin allergy that has_allergic_trigger cefotiam. (DO) rgd_disease_ontology DOID:0040103 cefotiam allergy A cephalosporin allergy that has_allergic_trigger cefotiam. (DO) PMID:28543395 A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO) TDI-induced asthma rgd_disease_ontology DOID:0040104 toluene 2,4-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO) rgd 2017-11-08T00:00:00Z RDO:9004909 rgd_disease_ontology DOID:0050004 seminal vesicle acute gonorrhea A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO) https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO) GARD:6038 MESH:D065632 MONDO:0017941 ORDO:324625 Chikungunya Virus Infection Chikungunya Virus Infections chikungunya fever rgd_disease_ontology DOID:0050012 chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO) http://en.wikipedia.org/wiki/Chikungunya_virus https://www.cdc.gov/chikungunya/about/ An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO) EFO:0000777 HGE human granulocytic ehrlichiosis rgd_disease_ontology DOID:0050025 human granulocytic anaplasmosis An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO) PMID:25999228 An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO) GARD:72 rgd_disease_ontology Ehrlichiosis chafeensis DOID:0050026 human monocytic ehrlichiosis An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO) https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/ An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO) rgd 2017-10-27T00:00:00Z EFO:0009556 MONDO:0000226 rgd_disease_ontology DOID:0050032 mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO) http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO) rgd 2017-10-06T00:00:00Z Rickettsia africae spotted fever South African tick-bite fever rgd_disease_ontology DOID:0050035 African tick-bite fever A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO) http://jcm.asm.org/cgi/reprint/42/2/816 http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO) rgd 2017-10-06T00:00:00Z rgd_disease_ontology DOID:0050041 Astrakhan spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO) PMID:7985764 http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO) rgd 2017-10-06T00:00:00Z MONDO:0000229 rgd_disease_ontology DOID:0050042 Indian tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO) http://www.biomedcentral.com/1471-2180/5/11 http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO) rgd 2017-10-06T00:00:00Z Israeli spotted fever rgd_disease_ontology DOID:0050043 Israeli tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO) http://www.biomedcentral.com/1471-2180/5/11 http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO) rgd 2017-10-06T00:00:00Z Rickettsia heilongjiangensis spotted fever rgd_disease_ontology DOID:0050046 Far Eastern spotted fever A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO) http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO) rgd 2017-10-06T00:00:00Z FISF Thai tick typhus rgd_disease_ontology DOID:0050047 Flinders Island spotted fever A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO) https://www.cdc.gov/otherspottedfever/imported/index.html A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO) rgd 2017-10-10T00:00:00Z Rickettsia japonica spotted fever oriental spotted fever rgd_disease_ontology DOID:0050050 Japanese spotted fever A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO) http://www.cdc.gov/otherspottedfever/index.html http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO) rgd 2017-10-11T00:00:00Z MONDO:0000234 maculatum infection rgd_disease_ontology DOID:0050051 Rickettsia parkeri spotted fever A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO) http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO) GARD:7585 MESH:D012373 ORDO:83311 Sao Paulo Typhus Tick typhus rgd_disease_ontology Brazilian spotted Choix Exanthematic typhus of Sao Paulo Fiebre maculosa Fiebre manchada So Paulo fever Tobia fever DOID:0050052 Rocky Mountain spotted fever A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO) http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 http://www.cdc.gov/otherspottedfever/index.html A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO) rgd_disease_ontology DOID:0050059 oropharyngeal anthrax A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO) PMID:3934300 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO) EFO:1000928 MESH:D004887 Erysipelothrix rhusiopathiae infectious disease erysipeloids rgd_disease_ontology DOID:0050061 erysipeloid A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO) https://en.wikipedia.org/wiki/Erysipeloid true A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO) rgd 2017-10-05T00:00:00Z MESH:C000656784 rgd_disease_ontology DOID:0050072 adiaspiromycosis A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO) http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO) DOID:9003219 MESH:D055732 MESH:D055744 Allergic Bronchopulmonary Mycoses Allergic Bronchopulmonary Mycosis Aspergilloses, Lung Bronchopulmonary Aspergillose Bronchopulmonary Aspergilloses Bronchopulmonary Aspergillosis Chronic Necrotizing Pulmonary Aspergillosis IPA Invasive Pulmonary Aspergilloses Invasive Pulmonary Aspergillosis Lung Aspergillosis pulmonary aspergilloses pulmonary aspergillosis rgd_disease_ontology DOID:0050073 invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO) http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO) GARD:8761 MESH:C536166 rgd_disease_ontology DOID:0050083 Keshan disease A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO) https://en.wikipedia.org/wiki/Keshan_disease A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO) rgd 2017-10-26T00:00:00Z MESH:C000656825 barber's itch beard ringworm dermatophytosis of beard rgd_disease_ontology DOID:0050096 tinea barbae A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO) https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO) rgd 2017-10-27T00:00:00Z MONDO:0000243 rgd_disease_ontology DOID:0050097 ectothrix infectious disease A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO) https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO) rgd 2017-10-27T00:00:00Z rgd_disease_ontology DOID:0050105 endothrix infectious disease A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO) http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO) rgd 2017-10-26T00:00:00Z MIM:275240 MONDO:0000245 rgd_disease_ontology tinea imbricata, susceptibility to DOID:0050116 tinea imbricata A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO) https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO) EFO:0000544 EFO:0005741 ICD9CM:079.0 MESH:D003141 MESH:D007239 communicable disease communicable diseases infection infections infectious disease infectious diseases recurrent infections rgd_disease_ontology DOID:0050117 disease by infectious agent A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO) https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO) ICD10CM:A83.5 ICD9CM:062.5 MESH:D004670 MONDO:0019378 ORDO:83483 California encephalitis California viral encephalitis California virus encephalitis neuroinvasive California encephalitis virus infection rgd_disease_ontology DOID:0050118 La Crosse encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO) https://en.wikipedia.org/wiki/La_Crosse_encephalitis https://www.cdc.gov/la-crosse-encephalitis/about/ https://www.ncbi.nlm.nih.gov/books/NBK562248/ A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO) GARD:6589 ICD10CM:D76.1 MESH:D051359 MIM:PS267700 NCI:C34792 ORDO:540 HPLH HPS haemophagocytic syndrome hemophagocytic lymphohistiocytoses hemophagocytic syndrome hemophagocytic syndromes infection-associated hemophagocytic syndrome primary hemophagocytic hymphohistiocytosis primary hemophagocytic lymphohistiocytosis reactive hemophagocytic syndrome rgd_disease_ontology DOID:0050120 hemophagocytic lymphohistiocytosis A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO) http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000248 DSS rgd_disease_ontology DOID:0050125 dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO) http://en.wikipedia.org/wiki/Dengue_shock_syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/ A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO) EFO:0007486 ICD10CM:J01 ICD9CM:461 MESH:D012852 NCI:C128411 Sinusitides CHES chronic hyperplastic eosinophilic sinusitis rgd_disease_ontology DOID:0050127 sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO) http://en.wikipedia.org/wiki/sinusitis A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050129 secretory diarrhea A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO) http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050130 osmotic diarrhea A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO) http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050131 motility-related diarrhea A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO) http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO) rgd 2017-10-04T00:00:00Z RDO:9002488 rgd_disease_ontology DOID:0050132 inflammatory diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO) http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO) ICD10CM:B36.9 MESH:D010854 MONDO:0024268 piedra piedras steroid-modified tinea infection rgd_disease_ontology DOID:0050133 superficial mycosis A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO) http://en.wikipedia.org/wiki/Mycoses http://www.mycology.adelaide.edu.au/Mycoses/ A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO) rgd 2017-10-05T00:00:00Z rgd_disease_ontology DOID:0050134 cutaneous mycosis A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO) http://en.wikipedia.org/wiki/Mycoses http://jama.ama-assn.org/cgi/reprint/61/6/407 A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO) rgd 2017-10-05T00:00:00Z MONDO:0000255 rgd_disease_ontology DOID:0050135 subcutaneous mycosis A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO) https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO) rgd 2017-10-05T00:00:00Z rgd_disease_ontology DOID:0050136 systemic mycosis A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO) http://dermnetnz.org/fungal/systemic-mycoses.html http://www.mycology.adelaide.edu.au/Mycoses/ http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO) EFO:0004712 MIM:614590 PDCOS mossy foot non-filarial elephantiasis podoconioses rgd_disease_ontology DOID:0050138 podoconiosis An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO) https://en.wikipedia.org/wiki/Podoconiosis A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050140 acute diarrhea A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO) http://en.wikipedia.org/wiki/Diarrhea A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0050141 intestinal botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO) http://www.who.int/mediacentre/factsheets/fs270/en/ https://jnnp.bmj.com/content/75/suppl_3/iii35 A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000259 rgd_disease_ontology DOID:0050143 asymptomatic dengue A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO) PMID:28107858 PMID:29111183 A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO) EFO:1001352 GARD:6815 MESH:D007619 NCI:C84797 ORDO:98861 Kartagener triad Kartagener's Triad Kartagener's syndrome Kartageners syndrome Kartageners triad Siewert syndrome dextrocardia, bronchiectasis, and sinusitis immotile cilia syndrome, Kartagener type primary ciliary dyskinesia, Kartagener type rgd_disease_ontology DOID:0050144 Kartagener syndrome A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO) PMID:19529061 PMID:23243352 PMID:24019633 PMID:25633235 http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO) rgd 2017-11-10T00:00:00Z ICD10CM:J35.02 ICD9CM:474.01 RDO:9004975 chronic adenoiditis rgd_disease_ontology DOID:0050145 adenoiditis An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO) http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false http://en.wikipedia.org/wiki/Adenoiditis An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO) MESH:D059249 MONDO:0000262 Singapore ear otomycoses rgd_disease_ontology DOID:0050147 otomycosis An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO) http://en.wikipedia.org/wiki/Otomycosis https://www.merriam-webster.com/medical/otomycosis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO) rgd 2017-11-10T00:00:00Z ICD10CM:J04 ICD10CM:J37.1 ICD9CM:464 ICD9CM:476.1 MONDO:0000263 rgd_disease_ontology DOID:0050148 laryngotracheitis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO) https://www.merriam-webster.com/medical/laryngotracheitis A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO) rgd 2017-09-28T00:00:00Z rgd_disease_ontology DOID:0050150 Pontiac fever A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO) PMID:623097 http://www.cdc.gov/legionella/patient_facts.htm A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO) MESH:D011015 MONDO:0000265 acid aspiration syndrome aspiration pneumonias gastric acid aspiration syndrome rgd_disease_ontology DOID:0050152 aspiration pneumonia A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO) https://en.wikipedia.org/wiki/Aspiration_pneumonia An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO) rgd 2017-09-29T00:00:00Z EFO:1001834 RDO:9002381 rgd_disease_ontology DOID:0050153 pulmonary aspergilloma An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO) http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO) rgd 2017-04-18T00:00:00Z DOID:9003045 EFO:0001058 EFO:0009543 MESH:D012678 Sensation Disorders Sensory Disorder Sensory Disorders sensation disorder sensory system diseases special senses disorder disturbances of sensation of smell and taste rgd_disease_ontology DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO) http://en.wikipedia.org/wiki/Sensory_system A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO) SFTPA2-related condition EFO:0000768 GARD:8609 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35715 NCI:C35716 ORDO:2032 IPF Idiopathic Fibrosing Alveolitis, Chronic Form cryptogenic fibrosing alveolitis familial idiopathic pulmonary fibrosis fibrocystic pulmonary dysplasia fibrocystic pulmonary dysplasias idiopathic pulmonary fibroses Hamman Rich disease UIP Hamman Rich disease rgd_disease_ontology idiopathic pulmonary fibrosis, susceptibility to usual interstitial pneumonia usual interstitial pneumonias usual interstitial pneumonitis DOID:0050156 idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO) PMID:32855221 https://www.ncbi.nlm.nih.gov/books/NBK448162/ https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO) EFO:1001300 GARD:1620 ICD10CM:J84.116 ICD9CM:516.36 MESH:D018549 NCI:C62586 ORDO:1302 BOOP Cryptogenic Organizing Pneumonias Cryptogenic organising pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia cryptogenic organizing pneumonitis idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia rgd_disease_ontology DOID:0050157 cryptogenic organizing pneumonia An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO) PMID:11790668 http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO) MIM:263000 ICD10CM:J84.117 ICD9CM:516.37 MESH:C562470 NCI:C35288 DIP ILD, DESQUAMATIVE Interstitial Lung Disease, Desquamative RBILD familial desquamative interstitial pneumonia familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease rgd_disease_ontology DOID:0050158 desquamative interstitial pneumonia An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO) PMID:11790668 PMID:16142185 PMID:16456642 PMID:23001799 http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO) ICD10CM:J84.2 MESH:C562489 MIM:247610 MONDO:0009537 NCI:C27558 ORDO:79128 lymphocytic interstitial pneumonia lymphocytic interstitial pneumonitis rgd_disease_ontology DOID:0050159 lymphoid interstitial pneumonia An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO) PMID:11790668 An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO) MESH:C571912 ORDO:247257 pulmonary anthrax respiratory anthrax wool-sorters' disease woolsorters' disease rgd_disease_ontology DOID:0050160 inhalation anthrax An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO) PMID:11988441 https://medlineplus.gov/ency/article/001325.htm https://www.cdc.gov/anthrax/basics/types/index.html A respiratory system disease which involves the lower respiratory tract. (DO) rgd 2017-11-10T00:00:00Z EFO:0009433 RDO:9004972 rgd_disease_ontology DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. (DO) http://en.wikipedia.org/wiki/lower_respiratory_tract An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO) ICD10CM:A18.17 ICD9CM:016.6 rgd_disease_ontology DOID:0050166 tuberculous salpingitis An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO) http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO) GARD:8466 MESH:C538275 MIM:240300 MONDO:0009411 ORDO:3453 APS I APS type 1 APS1 PGA I Whitaker syndrome autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia autoimmune polyendocrinopathy syndrome type 1 autoimmune polyendocrinopathy syndrome type I autoimmune polyendocrinopathy syndrome type I, autosomal dominant autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyglandular syndrome I autoimmune polyglandular syndrome type 1 autoimmune polyglandular syndrome type I hypoadrenocorticism with hypoparathyroidism and superficial moniliasis polyglandular deficiency syndrome, Persian-Jewish type rgd_disease_ontology DOID:0050167 autoimmune polyendocrine syndrome type 1 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO) https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO) rgd 2017-10-27T00:00:00Z GARD:7611 MIM:269200 ORDO:3143 APS2 Schmidt syndrome Schmidt's syndrome autoimmune polyendocrine syndrome type II autoimmune polyglandular syndrome type II multiple endocrine deficiency syndrome, type 2 polyglandular autoimmune syndrome, type 2 polyglandular deficiency syndrome, type 2 rgd_disease_ontology DOID:0050168 autoimmune polyendocrine syndrome type 2 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO) http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO) EFO:0003834 GARD:6225 MESH:D008178 MONDO:0005282 subacute cutaneous lupus erythematosus rgd_disease_ontology DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO) rgd_disease_ontology DOID:0050174 Kunjin encephalitis A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO) PMID:2552010 https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO) EFO:1001309 GARD:5216 ICD10CM:A84.1 ICD9CM:063.2 MESH:D004675 ORDO:297 Central European Encephalitis European Tick Borne Encephalitis European Tick-Borne Encephalitides Far Eastern Russian Encephalitis Far Eastern TBE Louping Ill Encephalitides Louping Ill Encephalitis Russian Spring Summer Encephalitis Siberian tick-borne encephalitis Tick-Borne Encephalitides Western European tick-borne encephalitis taiga encephalitis west-Siberian encephalitis rgd_disease_ontology DOID:0050175 tick-borne encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO) https://en.wikipedia.org/wiki/Tick-borne_encephalitis https://www.cdc.gov/tick-borne-encephalitis/about/ https://www.ecdc.europa.eu/en/tick-borne-encephalitis A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO) rgd 2017-09-13T00:00:00Z rgd_disease_ontology DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO) https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO) rgd 2017-10-17T00:00:00Z MONDO:0000276 Powassan Encephalitides rgd_disease_ontology DOID:0050179 Powassan encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO) https://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/ https://www.cdc.gov/powassan/about/ https://www.ncbi.nlm.nih.gov/articles/PMC5732952/ https://www.ncbi.nlm.nih.gov/books/NBK570599/ A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO) EFO:1000694 GARD:6372 MESH:D004892 MONDO:0006545 rgd_disease_ontology DOID:0050185 erythema multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO) http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO) MONDO:0020499 ORDO:99825 rgd_disease_ontology DOID:0050192 Nipah virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO) PMID:19141846 https://pmc.ncbi.nlm.nih.gov/articles/PMC9345211/ https://www.cdc.gov/nipah-virus/about/ https://www.ncbi.nlm.nih.gov/books/NBK570576/ https://www.who.int/csr/disease/nipah/en/ A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus (Mammarenavirus juninense), which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO) rgd 2017-10-31T00:00:00Z MONDO:0017874 ORDO:319223 rgd_disease_ontology DOID:0050194 Argentine hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus (Mammarenavirus juninense), which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO) http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever http://www.jstor.org/stable/30129873?seq=1 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus (Mammarenavirus machupoense), which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO) MESH:D006478 MONDO:0017875 ORDO:319229 rgd_disease_ontology DOID:0050195 Bolivian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus (Mammarenavirus machupoense), which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO) http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus (Mammarenavirus guanaritoense), which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO) rgd 2017-10-31T00:00:00Z MONDO:0017876 ORDO:319234 rgd_disease_ontology DOID:0050196 Venezuelan hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus (Mammarenavirus guanaritoense), which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO) PMID:34917387 PMID:7840443 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus (Mammarenavirus brazilense), which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO) rgd 2017-10-31T00:00:00Z MONDO:0017877 ORDO:319239 rgd_disease_ontology DOID:0050197 Brazilian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus (Mammarenavirus brazilense), which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO) PMID:7905555 http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus (Mammarenavirus chapareense). The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO) rgd 2017-10-31T00:00:00Z MONDO:0017878 ORDO:319244 rgd_disease_ontology DOID:0050198 Chapare hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus (Mammarenavirus chapareense). The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO) http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus (Mammarenavirus whitewaterense), which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO) rgd 2017-10-31T00:00:00Z MONDO:000028 rgd_disease_ontology DOID:0050199 Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus (Mammarenavirus whitewaterense), which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO) http://jama.ama-assn.org/cgi/content/full/284/10/1237 http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO) rgd 2017-10-20T00:00:00Z rgd_disease_ontology DOID:0050200 Korean hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO) PMID:1349231 http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO) rgd 2017-10-20T00:00:00Z MONDO:0000284 rgd_disease_ontology DOID:0050201 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO) PMID:1349231 PMID:2574903 PMID:2902106 A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom. (DO) rgd 2017-10-31T00:00:00Z GARD:21410 MESH:C000723471 MONDO:0017872 ORDO:319213 rgd_disease_ontology DOID:0050202 Lujo hemorrhagic fever A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom thrombocytopenia, and has_symptom bleeding. Bleeding is minor and not a prominent symptom. (DO) PMID:19478873 https://en.wikipedia.org/wiki/Lujo_virus https://pmc.ncbi.nlm.nih.gov/articles/PMC2866397/ https://pmc.ncbi.nlm.nih.gov/articles/PMC4230886/ https://www.cdc.gov/lujo-fever/about/index.html A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO) rgd 2017-09-28T00:00:00Z MONDO:0000286 rgd_disease_ontology DOID:0050204 Epstein-Barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO) PMID:16711324 PMID:17602362 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO) rgd 2017-10-18T00:00:00Z EFO:0005226 MONDO:0005460 rgd_disease_ontology DOID:0050211 swine influenza An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO) PMID:9140195 https://www.cdc.gov/swine-flu/about/index.html A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO) ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 MONDO:0018556 NCI:C3155 ORDO:43393 Eaton-Lambert Myasthenic-Myopathic Syndrome Eaton-Lambert syndrome LEMS myasthenic-myopathic syndrome of Eaton Lambert rgd_disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO) http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO) rgd 2017-09-29T00:00:00Z RDO:9002368 human polycystic hydatid disease neotropical echinococcosis rgd_disease_ontology DOID:0050218 polycystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO) http://en.wikipedia.org/wiki/Echinococcosis http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO) rgd 2017-10-17T00:00:00Z MONDO:0018039 ORDO:331235 rgd_disease_ontology DOID:0050222 selective IgM deficiency disease A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO) http://en.wikipedia.org/wiki/IgM http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO) GARD:9554 MONDO:0000290 Naegleria fowleri infection meningoencephalitis caused by Naegleria fowleri rgd_disease_ontology DOID:0050242 primary amebic meningoencephalitis A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO) http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO) rgd 2017-09-28T00:00:00Z GARD:12651 acanthamoeba encephalitis acanthamoeba granulomatous encephalitis granulomatous amebic encephalitis due to acanthamoeba granulomatous amoebic encephalitis rgd_disease_ontology DOID:0050246 granulomatous amebic encephalitis A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO) http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO) rgd 2017-10-04T00:00:00Z rgd_disease_ontology DOID:0050250 philophthalmiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO) http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO) rgd 2017-10-04T00:00:00Z rgd_disease_ontology DOID:0050251 coenurosis A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO) https://en.wikipedia.org/wiki/Coenurosis https://www.cdc.gov/dpdx/coenurosis/index.html A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO) rgd 2017-10-04T00:00:00Z RDO:9002492 rgd_disease_ontology DOID:0050253 mesocestoidiasis A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO) http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO) rgd 2017-10-04T00:00:00Z MONDO:0000295 rgd_disease_ontology DOID:0050254 acanthocephaliasis A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO) https://www.cdc.gov/dpdx/acanthocephaliasis/index.html A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO) GARD:683 MESH:C536369 ORDO:74 Angiostrongylus cantonensis infection Angiostrongylus costaricensis infection Intravitreal angiostrongyliasis Parastrongylus costaricensis infection abdominal angiostrongyliasis human eosinophilic meningitis rat lungworm infection rgd_disease_ontology DOID:0050256 angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO) https://en.wikipedia.org/wiki/Angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO) rgd 2017-10-04T00:00:00Z rgd_disease_ontology DOID:0050259 baylisascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO) https://en.wikipedia.org/wiki/Baylisascaris A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO) rgd 2017-10-04T00:00:00Z rgd_disease_ontology DOID:0050260 dioctophymiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO) http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO) rgd 2017-10-05T00:00:00Z rgd_disease_ontology DOID:0050261 thelaziasis A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO) http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO) EFO:1001445 GARD:393 MESH:D058285 MONDO:0019498 ORDO:879 rgd_disease_ontology DOID:0050266 tungiasis A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO) http://en.wikipedia.org/wiki/Tungiasis http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO) rgd_disease_ontology DOID:0050268 ophthalmomyiasis A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO) http://en.wikipedia.org/wiki/Myiasis http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO) EFO:0007521 ICD10CM:A59.00 MESH:D014247 NCI:C35083 Trichomonas Vaginitides Trichomonas vaginitis urogenital trichomonas rgd_disease_ontology DOID:0050269 Trichomonas vaginalis trichomoniasis A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO) http://en.wikipedia.org/wiki/Trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO) MONDO:0030906 rgd_disease_ontology DOID:0050270 Trichomonas tenax trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO) http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO) rgd 2017-10-26T00:00:00Z MONDO:0000302 rgd_disease_ontology DOID:0050278 basidiobolomycosis A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO) https://en.wikipedia.org/wiki/Basidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO) rgd 2017-10-26T00:00:00Z MONDO:0000303 rgd_disease_ontology DOID:0050279 conidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO) https://en.wikipedia.org/wiki/Conidiobolomycosis An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO) rgd 2017-10-05T00:00:00Z rgd_disease_ontology DOID:0050288 penicilliosis An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO) http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO) EFO:1001795 MESH:D060585 ORDO:228119 Disseminated Fusariosis Fusarioses Fusarium Infection Fusarium Infections Invasive Fusarioses Invasive Fusariosis Invasive Pulmonary Fusarioses Invasive Pulmonary Fusariosis Pulmonary Fusarioses disseminated fusarioses pulmonary fusariosis rgd_disease_ontology DOID:0050289 fusariosis An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO) PMID:14748803 An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO) MESH:D060586 Disseminated Trichosporonosis Invasive Trichosporonoses Invasive Trichosporonosis Japanese Summer Type Hypersensitivity Pneumonitis Summer Type Hypersensitivity Pneumonitis Summer-Type Hypersensitivity Pneumonitides disseminated trichosporonoses trichosporonoses rgd_disease_ontology DOID:0050290 trichosporonosis An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO) https://en.wikipedia.org/wiki/Trichosporonosis A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO) rgd 2017-09-27T00:00:00Z rgd_disease_ontology DOID:0050291 parasitic Ichthyosporea infectious disease A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO) http://en.wikipedia.org/wiki/Mesomycetozoea A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO) rgd 2017-10-05T00:00:00Z MONDO:0000308 rgd_disease_ontology DOID:0050292 primary systemic mycosis A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO) https://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO) EFO:1001266 MESH:D000839 MONDO:0000309 rgd_disease_ontology DOID:0050304 aniseikonia A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO) https://en.wikipedia.org/wiki/Aniseikonia A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO) MONDO:0000310 rgd_disease_ontology Alkhurma hemorrhagic fever DOID:0050308 Alkhumra hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO) http://en.wikipedia.org/wiki/Alkhurma_virus https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ https://www.cdc.gov/alkhurma/about/ A hypothyroidism that is present at birth. (DO) MIM:228355 GARD:1487 ICD10CM:E00.1 ICD9CM:243 MESH:D003409 MIM:PS275200 NCI:C26734 NCI:C98921 ORDO:1910 ORDO:442 Cretinism Endemic Cretinism Fetal Iodine Deficiency Disorder congenital myxedema experimental congenital hypothyroidism rgd_disease_ontology DOID:0050328 congenital hypothyroidism A hypothyroidism that is present at birth. (DO) http://en.wikipedia.org/wiki/Congenital_hypothyroidism http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO) DOID:9004849 MIM:149730 MONDO:0100302 LADD Syndrome 1 LADD1 Lacrimo-auriculo-dento-digital syndrome 1 rgd_disease_ontology DOID:0050331 lacrimoauriculodentodigital syndrome 1 A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO) rgd 2017-10-26T00:00:00Z GARD:8651 RDO:9003730 EVA large vestibular aqueduct rgd_disease_ontology DOID:0050332 enlarged vestibular aqueduct A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO) https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO) GARD:12299 MESH:C564243 MIM:PS608415 ORDO:75374 PERRS prolonged electroretinal response suppression rgd_disease_ontology DOID:0050335 bradyopsia A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO) PMID:17826834 https://medlineplus.gov/genetics/condition/bradyopsia/ A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO) HYPOPHOSPHATAEMIA OR RICKETS MESH:D017674 hypophosphatemias rgd_disease_ontology DOID:0050336 hypophosphatemia A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO) https://en.wikipedia.org/wiki/Hypophosphatemia A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO) DOID:13238 MONDO:0000314 primary bacterial infectious diseases rgd_disease_ontology DOID:0050338 primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO) http://en.wikipedia.org/wiki/Infectious_disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO) MONDO:0000315 rgd_disease_ontology DOID:0050339 commensal bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO) PMID:24727150 https://www.microbiologyinpictures.com/introduction.html A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO) rgd 2017-10-06T00:00:00Z rgd_disease_ontology DOID:0050340 opportunistic bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO) http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0050352 foodborne botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO) https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/ A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO) rgd 2017-10-02T00:00:00Z MONDO:0015803 ORDO:178475 wound botulisms rgd_disease_ontology DOID:0050353 wound botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO) http://www.who.int/mediacentre/factsheets/fs270/en/ A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO) rgd 2017-10-02T00:00:00Z infantile botulism rgd_disease_ontology DOID:0050354 infant botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO) https://www.aafp.org/afp/2002/0401/p1388.html A tularemia that results_in swelling of regional lymph glands. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050382 glandular tularemia A tularemia that results_in swelling of regional lymph glands. (DO) http://www.cdc.gov/tularemia/signssymptoms/ A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050383 typhoidal tularemia A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO) PMID:29635071 A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO) rgd 2017-09-06T00:00:00Z MONDO:0007763 rgd_disease_ontology DOID:0050387 nonpapillary renal cell carcinoma A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO) PMID:2921777 PMID:8415591 A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO) rgd 2017-10-17T00:00:00Z MONDO:0018984 ORDO:659756 Carrion disease Carrions disease Oroya fever rgd_disease_ontology DOID:0050398 Carrion's disease A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO) http://en.wikipedia.org/wiki/Carrion%27s_disease A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO) MIM:610984 MESH:C572568 ORDO:200418 C3 glomerulopathy 2 C3 inactivator deficiency C3G2 CFID complement component 3 inactivator deficiency rgd_disease_ontology DOID:0050419 complement factor I deficiency A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO) MIM:610984 An intestinal disease that is characterized by predisposition to colon cancer. (DO) APC-associated polyposis disorders CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS MYH-associated polyposis EFO:1000633 GARD:6408 ICD10CM:D13.91 MESH:D011125 MIM:PS175100 MONDO:0021057 NCI:C3339 ORDO:733 APC Adenomatous Polyposis Colus Adenomatous Polyposis of the Colon FPC Familial Adenomatous Polyposes Familial Adenomatous Polyposis Coli Familial Adenomatous Polyposis of the Colon Familial Intestinal Polyposes Familial Intestinal Polyposis Familial Multiple Polyposes Familial Multiple Polyposi Familial Multiple Polyposis Familial Multiple Polyposis Syndrome Familial Multiple Polyposus Familial Polyposis Coli Familial Polyposis Colus Familial Polyposis Syndrome Familial Polyposis of the Colon adenomatous colonic polyposis adenomatous intestinal polyposis adenomatous polyposis coli hereditary polyposis coli hereditary polyposis colus polyposis coli polyposis colus AAPC ADENOMATOUS POLYPOSIS COLI, ATTENUATED BRAIN TUMOR-POLYPOSIS SYNDROME 2 BTPS2 HEREDITARY MIXED POLYPOSIS polymerase proofreading-related adenomatous polyposis rgd_disease_ontology DOID:0050424 familial adenomatous polyposis An intestinal disease that is characterized by predisposition to colon cancer. (DO) http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/ https://www.ncbi.nlm.nih.gov/books/NBK1345/ A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO) MIM:610438 MIM:610439 MIM:611185 MIM:611242 MIM:612853 MIM:615197 EFO:0004270 GARD:11926 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 MIM:PS102300 NCI:C84501 Ekbom syndrome PERIODIC LIMB MOVEMENTS IN SLEEP Restless Leg Syndrome Restless Legs WED Willis Ekbom Disease Willis Ekbom Syndrome Wittmaack Ekbom syndrome hereditary acromelalgia rgd_disease_ontology RLS3 RLS4 RLS5 RLS6 RLS7 RLS8 restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to, 4 restless legs syndrome, susceptibility to, 5 restless legs syndrome, susceptibility to, 6 restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to, 8 DOID:0050425 restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO) http://en.wikipedia.org/wiki/Restless_legs_syndrome http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO) MIM:608579 EFO:0004276 EFO:0004775 GARD:7700 ICD10CM:L51.1 ICD9CM:695.13 MESH:D013262 NCI:C79484 NCI:C79777 ORDO:36426 Lyell Syndrome Lyell's Syndrome Lyell's Syndromes Mycoplasma Induced Stevens Johnson Syndrome Nonstaphylococcal Scalded Skin Syndrome SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO Stevens Johnson Syndrome Toxic Epidermal Necrolysis Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Toxic Epidermal Necrolyses drug-induced Stevens-Johnson syndrome toxic epidermal necrolysis STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO carbamazepine-induced hypersensitivity syndrome, susceptibility to toxic epidermal necrolysis, susceptibility to rgd_disease_ontology DOID:0050426 Stevens-Johnson syndrome A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO) https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO) GARD:7910 MESH:D014983 MIM:PS278700 MONDO:0019600 NCI:C3452 ORDO:910 Kaposi disease Kaposi's disease XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP J rgd_disease_ontology DOID:0050427 xeroderma pigmentosum A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO) http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO) EFO:1000743 MESH:C563422 NEPPK NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS PPKNE Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma diffuse nonepidermolytic palmoplantar keratoderma diffuse orthohyperkeratotic keratoderma keratosis palmoplantaris diffusa circumscripta rgd_disease_ontology DOID:0050428 nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO) http://en.wikipedia.org/wiki/Palmoplantar_keratoderma A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO) MIM:169600 GARD:6559 MESH:D016506 NCI:C82865 ORDO:2841 ATP2C1-RELATED CONDITION BCPM HHD benign chronic pemphigus benign familial pemphigus familial benign chronic pemphigus rgd_disease_ontology DOID:0050429 Hailey-Hailey disease A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO) https://rarediseases.org/rare-diseases/hailey-hailey-disease/ A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO) MEA II MEN 2 MEN II MEN2 Disease MEN2 Phenotype: Unclassified MEN2 Phenotype: Unknown Multiple Endocrine Neoplasia 2 Multiple Endocrine Neoplasia Type 2 multiple endocrine neoplasia II ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 MIM:171400 MONDO:0008234 NCI:C3226 ORDO:247698 FMTC AND UNCLASSIFIED MEA 2A MEA IIa MEN 2A syndrome MEN 2a MEN IIa MEN-2A Syndromes MEN2a Multiple Endocrine Neoplasia, Type IIa Multiple Endocrine Neoplasms Type 2a PTC syndrome Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Sipple syndrome MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease familial medullary thyroid carcinoma rgd_disease_ontology MEN2A and Unclassified DOID:0050430 multiple endocrine neoplasia type 2A A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO) PMID:15965261 http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO) ARRHYTHMOGENIC CARDIOMYOPATHY EFO:0002631 MESH:D019571 MIM:PS107970 MONDO:0016587 NCI:C84571 ORDO:217656 ORDO:247 ARVC ARVD ARVD-C Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia Arrhythmogenic Right Ventricular Dysplasia CARDIOMYOPATHY, ARVC right ventricular ACM right ventricular cardiomyopathy FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY rgd_disease_ontology DOID:0050431 arrhythmogenic right ventricular cardiomyopathy An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO) PMID:31637441 http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy http://my.clevelandclinic.org/services/heart/disorders/arvd http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO) MIM:608631 MIM:608638 MIM:608781 MIM:609954 EFO:0003757 GARD:5855 ICD10CM:F84.5 MESH:D020817 MIM:PS608638 MONDO:0005259 NCI:C97159 ORDO:1162 ASPG Asperger disease Asperger diseases Asperger disorder Asperger disorders Asperger's Disease Asperger's diseases Asperger's disorder Asperger's syndrome Aspergers disease Aspergers disorder Aspergers syndrome rgd_disease_ontology ASPG1 ASPG2 ASPG3 ASPG4 ASPGX1 ASPGX2 Asperger Syndrome, Susceptibility To, 1 Asperger Syndrome, Susceptibility To, 2 Asperger Syndrome, Susceptibility To, 3 Asperger Syndrome, Susceptibility To, 4 Asperger Syndrome, X-Linked, Susceptibility To, 1 Asperger Syndrome, X-Linked, Susceptibility To, 2 DOID:0050432 Asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO) http://en.wikipedia.org/wiki/Asperger_syndrome http://www.neurodevnet.ca A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO) MIM:600072 GARD:6429 ICD10CM:A81.83 ICD9CM:046.72 MESH:D034062 NCI:C84711 ORDO:466 FFI familial fatal insomnias rgd_disease_ontology DOID:0050433 fatal familial insomnia A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO) https://en.wikipedia.org/wiki/Fatal_familial_insomnia A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO) GARD:9453 MESH:D050030 MIM:170390 MONDO:0008222 NCI:C84559 ORDO:37553 ATS Andersen cardiodysrhythmic periodic paralysis Andersen cardiodysrythmic periodic paralysis Andersen syndrome LQT7 long QT syndrome 7 potassium-sensitive cardiodysrhythmic type potassium-sensitive cardiodysrhythmic type periodic paralysis potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features rgd_disease_ontology DOID:0050434 Andersen-Tawil syndrome A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO) http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome http://en.wikipedia.org/wiki/Long_QT_syndrome A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO) TRIM37-related condition GARD:95 MESH:C538604 MESH:D050336 MIM:253250 MONDO:0009664 NCI:C84906 ORDO:2576 MUL Perheentupa syndrome mulibrey growth disorder mulibrey nanism syndrome muscle liver brain eye nanism pericardial constriction and growth failure pericardial constriction with growth failure rgd_disease_ontology DOID:0050436 mulibrey nanism A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO) https://rarediseases.org/rare-diseases/mulibrey-nanism/ A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO) LAMP2-related condition EFO:1001333 GARD:9730 ICD10CM:E74.05 MESH:D052120 MIM:300257 MONDO:0010281 NCI:C84735 ORDO:34587 Antopol disease GSD IIb GSD2B Glycogen Storage Disease Limited to the Heart X-linked vacuolar cardiomyopathy and myopathy glycogen storage cardiomyopathies glycogen storage cardiomyopathy glycogen storage disease IIB glycogen storage disease type 2B glycogen storage disease type IIB lysosomal glycogen storage disease with normal acid maltase lysosomal glycogen storage disease without acid maltase deficiency pseudoglycogenosis 2 pseudoglycogenosis II rgd_disease_ontology DOID:0050437 Danon disease A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO) https://rarediseases.org/rare-diseases/danon-disease/ A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO) GARD:2375 MESH:D052159 MIM:136680 MONDO:0007635 NCI:C122805 ORDO:347 rgd_disease_ontology DOID:0050438 Frasier syndrome A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO) https://ghr.nlm.nih.gov/condition/frasier-syndrome A syndrome characterized by a combination of hearing loss and visual impairment. (DO) GARD:7843 ICD10CM:Q99.81 ICD10CM:Q99.813 MESH:D052245 MIM:PS276900 MONDO:0019501 NCI:C85217 ORDO:886 Graefe Usher syndrome Hallgren syndrome Usher's syndrome dystrophia retinae pigmentosa dysostosis syndrome retinitis pigmentosa and congenital deafness rgd_disease_ontology DOID:0050439 Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. (DO) http://en.wikipedia.org/wiki/Usher_syndrome A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO) GARD:11962 MESH:D052496 MIM:PS151660 NCI:C84708 ORDO:98306 Koberling Dunnigan Syndrome familial partial lipodystrophies reverse partial lipodystrophies reverse partial lipodystrophy lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules rgd_disease_ontology DOID:0050440 familial partial lipodystrophy A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO) MIM:608600 http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO) ICD10CM:E75.26 MESH:D052517 MIM:272200 MONDO:0010088 NCI:C84908 ORDO:585 MSD juvenile sulfatidoses juvenile sulfatidosis multiple sulfatase deficiencies multiple sulfatase deficiency multiple sulfatase deficiency disease multiple sulfatase deficiency diseases multiple sulphatase deficiency disease sulfatidosis juvenile, Austin type rgd_disease_ontology DOID:0050441 mucosulfatidosis A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO) https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO) MESH:D052919 NCI:C84789 ORDO:772 Infantile Refsums Disease NEONATAL ADRENOLEUCODYSTROPHY PEROXISOME BIOGENESIS DISORDER (NALD/IRD) Refsum disease, infantile form autosomal neonatal adrenoleukodystrophy infantile Refsum's disease infantile form of phytanic acid storage disease infantile phytanic acid storage disease peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease) rgd_disease_ontology DOID:0050444 infantile Refsum disease A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO) https://en.wikipedia.org/wiki/Infantile_Refsum_disease https://www.ncbi.nlm.nih.gov/books/NBK560618/ A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO) PHEX-related condition GARD:12943 MIM:307800 NCI:C85234 ORDO:89936 FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia X-linked vitamin D resistant rickets XLH XLHR rgd_disease_ontology DOID:0050445 X-linked hypophosphatemic rickets A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO) http://en.wikipedia.org/wiki/X-linked_hypophosphatemia https://www.ncbi.nlm.nih.gov/books/NBK83985/ A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO) GARD:8501 MESH:D053529 MIM:PS193900 NCI:C84760 ORDO:171723 hereditary mucosal leukokeratoses hereditary mucosal leukokeratosis white sponge nevus of Cannon rgd_disease_ontology DOID:0050448 white sponge nevus A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO) PMID:29034652 http://en.wikipedia.org/wiki/White_sponge_nevus A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO) GARD:10753 MESH:D053549 MIM:PS167200 MONDO:0016471 NCI:C84986 ORDO:2309 PC-K6A congenital pachyonychia congenital pachyonychias pachyonychia congenita syndrome rgd_disease_ontology DOID:0050449 pachyonychia congenita A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO) https://ghr.nlm.nih.gov/condition/pachyonychia-congenita A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO) GARD:8547 MESH:D053579 MIM:263800 MONDO:0009904 NCI:C84730 ORDO:358 GTLMNS Gitelman's syndrome SLC12A3-related condition familial hypokalemia hypomagnesemia potassium and magnesium depletion primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria tubular hypomagnesemia hypokalemia with hypocalcuria rgd_disease_ontology DOID:0050450 Gitelman syndrome A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO) https://ghr.nlm.nih.gov/condition/gitelman-syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO) EFO:0004691 GARD:1030 MESH:D053840 MIM:PS601144 MONDO:0015263 NCI:C142891 ORDO:130 Bangungut Brugada ECG pattern Brugada Type ECG Pattern Brugada syndrome (shorter-than-normal QT interval) Brugada type idiopathic ventricular fibrillation Pokkuri death syndrome SUNDS dream disease sudden unexplained death syndrome sudden unexplained nocturnal death syndrome sudden unexplained nocturnal death syndrome (SUNDS) Brugada Syndrome, Lidocaine-Induced SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC rgd_disease_ontology Brugada syndrome, phenotype modifier DOID:0050451 Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO) http://en.wikipedia.org/wiki/Brugada_syndrome A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO) GARD:3588 MESH:D054078 MIM:610377 MONDO:0012481 NCI:C84890 ORDO:29 ORDO:309025 DEFICIENCY OF MEVALONATE KINASE HIDS MEVA mevalonate kinase deficiencies mevalonate kinase deficiency mevalonicaciduria mevalonicacidurias rgd_disease_ontology DOID:0050452 mevalonic aciduria A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO) https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO) EFO:0011063 GARD:12291 ICD10CM:Q04.3 MESH:D054082 MIM:PS607432 MONDO:0018838 NCI:C103921 ORDO:102009 ORDO:48471 ILS LISSENCEPHALY SEQUENCE, ISOLATED Lissencephalia Lissencephalies agyria broad gyri of cerebrum large gyri of cerebrum macrogyria macrogyrias pachygyria pachygyrias LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA SBH lissencephaly, dominant lissencephaly, recessive posterior predominant lissencephaly subcortical band heterotopia rgd_disease_ontology DOID:0050453 lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO) http://en.wikipedia.org/wiki/Lissencephaly http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO) MESH:D054091 MIM:300049 MIM:PS300049 MONDO:0020341 NCI:C202072 ORDO:98892 BPNH NHBP PVNH1 Periventricular Heterotopia Periventricular Heterotopias Periventricular Nodular Heterotopia 1 X-linked periventricular heterotopia bilateral periventricular nodular heterotopia familial nodular heterotopia familial nodular heterotopias periventricular heterotopia, X-linked dominant periventricular nodular heterotopias HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA rgd_disease_ontology DOID:0050454 periventricular nodular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO) http://ghr.nlm.nih.gov/condition/periventricular-heterotopia A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO) MIM:610446 SLC11A1-RELATED CONDITION EFO:1001281 GARD:9520 ICD10CM:A31.1 MESH:D054312 MONDO:0000327 NCI:C84604 BURULI ULCER, SUSCEPTIBILITY TO Bairnsdale ulcer Buruli Ulcer Diseases Buruli ulcer Daintree ulcer Mossman ulcer Mycobacterium ulcerans Infection Mycobacterium ulcerans Infections Searl ulcer Searle's ulcer rgd_disease_ontology Mycobacterium ulcerans, susceptibility to DOID:0050456 Buruli ulcer disease A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO) http://en.wikipedia.org/wiki/Buruli_ulcer http://www.who.int/mediacentre/factsheets/fs199/en/ A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO) EFO:1001422 GARD:8406 MESH:D054331 NCI:C168988 Del Castillo syndrome germinal cell aplasia rgd_disease_ontology DOID:0050457 Sertoli cell-only syndrome A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO) https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO) MIM:607785 CBL-RELATED CONDITION CBL-RELATED DISORDER EFO:1000309 GARD:9884 ICD10CM:C93.3 ICDO:9946/3 MESH:D054429 NCI:C9233 ORDO:86834 JMML juvenile chronic myelogenous leukemia juvenile myelomonocytic leukemias CMML juvenile myelomonocytic leukemia, chronic myelomonocytic rgd_disease_ontology DOID:0050458 juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO) https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO) GALNT3-related condition MESH:D054559 MONDO:0000328 NCI:C113750 hyperphosphatemias rgd_disease_ontology DOID:0050459 hyperphosphatemia A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO) https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO) GARD:7896 ICD10CM:Q93.3 MESH:D054877 MIM:194190 MONDO:0008684 NCI:C35528 ORDO:280 4P PARTIAL MONOSOMY SYNDROME 4p deletion syndrome 4p- Syndrome CHROMOSOME 4p16.3 DELETION SYNDROME Chromosome 4p Monosomy Chromosome 4p Syndrome Del(4p) Syndrome Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation PRDS Partial Monosomy 4p Pitt Rogers Danks Syndrome Pitt syndrome WHS Wolf syndrome Wolf-Hirchhorn syndrome chromosome 4p deletion syndrome chromosome 4p syndromes rgd_disease_ontology DOID:0050460 Wolf-Hirschhorn syndrome A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO) https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO) MESH:C538402 MIM:208400 GARD:5854 MESH:D054880 NCI:C61273 ORDO:93 AGA deficiencies AGA deficiency AGU aspartylglucosamidase (AGA) deficiency aspartylglucosamidase deficiencies aspartylglucosamidase deficiency aspartylglucosaminidase deficiency aspartylglucosaminuria, Finnish type aspartylglucosaminurias aspartylglycosaminuria aspartylglycosaminuria, Finnish type aspartylglycosaminurias glycoasparaginase glycoasparaginases glycosylasparaginase deficiency rgd_disease_ontology DOID:0050461 aspartylglucosaminuria A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO) https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO) DOID:9003979 POR-RELATED DISORDER MIM:201750 MONDO:0008726 NCI:C174439 NCI:C178415 ORDO:63269 ABS1 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis Antley-Bixler syndrome like phenotype with disordered steroidogenesis Antley-Bixler syndrome, autosomal dominant Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency POR deficiency trapezoidocephaly synostosis syndrome rgd_disease_ontology DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO) PMID:35070845 http://en.wikipedia.org/wiki/Antley-Bixler_syndrome An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO) CMPD1/SRA1 SOX9-related condition EFO:0004140 GARD:10027 MESH:D055036 MIM:114290 MONDO:0007251 NCI:C120205 NCI:C84609 ORDO:140 CMD1 CMPD campomelic dwarfism campomelic dysplasias campomelic syndrome campomelic syndromes camptomelic dysplasia rgd_disease_ontology acampomelic campomelic dysplasia acampomelic campomelic dysplasia with autosomal sex reversal DOID:0050463 campomelic dysplasia An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO) http://en.wikipedia.org/wiki/Campomelic_dysplasia http://ghr.nlm.nih.gov/condition/campomelic-dysplasia http://www.healthline.com/galecontent/campomelic-dysplasia-1 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO) MIM:228000 ASAH1-RELATED CONDITION GARD:6426 MESH:D055577 NCI:C84710 ORDO:333 AC deficiency Ceramidase Deficiency FRBRL Farber Disease Farber's Disease Farber's diseases Farber's lipogranulomatosis Farbers Disease N-laurylsphingosine deacylase deficiencies N-laurylsphingosine deacylase deficiency acid ceramidase deficiencies acid ceramidase deficiency ceramidase deficiencies rgd_disease_ontology ASAH1-RELATED SPHINGOLIPIDOSIS DOID:0050464 Farber lipogranulomatosis A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO) https://en.wikipedia.org/wiki/Farber_disease A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO) GARD:6821 MESH:D055653 MIM:158320 MONDO:0008018 NCI:C84905 ORDO:587 CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS MRTES Muir-Torré syndrome rgd_disease_ontology DOID:0050465 Muir-Torre syndrome A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO) https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO) GARD:10788 MESH:C538192 MESH:D055947 MIM:PS609192 MONDO:0018954 NCI:C75006 ORDO:60030 ORDO:97295 Loeys Dietz aortic aneurysm syndrome Loeys Dietz syndrome, type 1A Marfanoid disorder with craniosynostosis, type 2 aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations rgd_disease_ontology DOID:0050466 Loeys-Dietz syndrome A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO) https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO) MESH:D056266 MIM:PS133200 NCI:C84696 ORDO:317 EKV EKVP Mendes De Costa syndrome PSEK erythro et keratodermia variabilis erythrokeratodermia figurata variabilis erythrokeratodermia variabilis et progressiva progressive symmetric erythrokeratodermia rgd_disease_ontology DOID:0050467 erythrokeratodermia variabilis A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO) https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO) EFO:1001452 GARD:184 ICD10CM:L60.5 MESH:D056684 MIM:153300 MONDO:0007921 NCI:C85238 ORDO:662 YNS lymphedema and yellow nails rgd_disease_ontology DOID:0050468 yellow nail syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO) PMID:28241848 A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO) GARD:1550 MESH:D056685 MIM:218040 MONDO:0009026 NCI:C84652 ORDO:3071 CSTLO FCS syndrome FCS syndromes faciocutaneoskeletal syndrome faciocutaneoskeletal syndromes CMEMS congenital myopathy with excess of muscle spindles rgd_disease_ontology DOID:0050469 Costello syndrome A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO) PMID:17250658 PMID:907573 A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO) MESH:C562709 MESH:D056731 MIM:246200 MONDO:0009517 NCI:C131000 NCI:C84676 ORDO:508 leprechaunism leprechaunism syndrome rgd_disease_ontology defect in insulin receptor DOID:0050470 Donohue syndrome A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO) https://en.wikipedia.org/wiki/Donohue_syndrome A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO) MIM:160980 MIM:605244 GARD:1119 MESH:D056733 NCI:C4705 ORDO:1359 CAR CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2 CNC1 CNC2 Carney Myxoma Endocrine Complex Carney Myxoma Endocrine Complex, Type II Carney complex, type 1 Carney complex, type 2 Carney complex, type I Carney complex, type II Carney syndrome LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome LAMB syndrome NAME syndrome myxoma, spotty pigmentation, and endocrine overactivity nevi, atrial myxoma, skin myxoma, ephelides syndrome rgd_disease_ontology DOID:0050471 Carney complex A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO) http://en.wikipedia.org/wiki/Carney_complex http://ghr.nlm.nih.gov/condition/carney-complex A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO) GARD:93 ICD10CM:Q84.1 MESH:D056734 MONDO:0008009 NCI:C84894 ORDO:573 MNLIX nodose hair rgd_disease_ontology DOID:0050472 monilethrix A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO) https://ghr.nlm.nih.gov/condition/monilethrix A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO) ALMS1-related condition MESH:D056769 MIM:203800 MONDO:0008763 NCI:C84549 ORDO:64 ALMS ALSS Alstrom Hallgren syndrome Alstrom's syndrome Alstroms syndrome rgd_disease_ontology DOID:0050473 Alstrom syndrome A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO) http://en.wikipedia.org/wiki/Alstrom_syndrome A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO) MIM:256500 GARD:7182 MESH:D056770 NCI:C84922 ORDO:634 Comel-Netherton syndrome ICHTHYOSIS LINEARIS CIRCUMFLEXA NETH NS Netherton disease SPINK5-RELATED CONDITION ichthyosiform erythroderma with hypotrichosis and hyper-IgE rgd_disease_ontology DOID:0050474 Netherton syndrome A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO) https://ghr.nlm.nih.gov/condition/netherton-syndrome A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO) GARD:4936 MESH:D056846 MIM:PS277600 MONDO:0018096 NCI:C85226 ORDO:3449 Marchesani Syndrome Marchesani-Weill syndromes congenital mesodermal dysmorphodystrophies congenital mesodermal dysmorphodystrophy congenital mesodermal dystrophy spherophakia brachymorphia syndrome Weill Marchesani syndrome, autosomal recessive rgd_disease_ontology DOID:0050475 Weill-Marchesani syndrome A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO) http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO) GARD:5890 ICD10CM:E78.71 MESH:D056889 MIM:302060 MONDO:0010543 NCI:C84585 ORDO:111 3 methylglutaconicaciduria type 2 3-Methylglutaconicaciduria Type II 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type II BTHS MGA type 2 MGA type II MGA2 MGCA2 X-linked cardioskeletal myopathy and neutropenia cardioskeletal myopathy with neutropenia and abnormal mitochondria cardioskeletal myopathy-neutropenia syndrome rgd_disease_ontology DOID:0050476 Barth syndrome A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO) http://en.wikipedia.org/wiki/Barth_syndrome http://www.ninds.nih.gov/disorders/barth/barth.htm A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO) GARD:7381 MESH:D056929 MIM:PS177200 NCI:C84827 ORDO:526 LIDLS Liddle's syndrome pseudoaldosteronism rgd_disease_ontology DOID:0050477 Liddle syndrome A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO) https://en.wikipedia.org/wiki/Liddle%27s_syndrome A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO) MESH:D014438 MONDO:0019362 ORDO:83314 epidemic louse-borne typhus fever due to Rickettsia prowazekii jail fever louse-borne epidemic typhus louse-borne rickettsiosis louse-borne typhus sylvatic typhus rgd_disease_ontology DOID:0050480 epidemic typhus A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO) http://en.wikipedia.org/wiki/Epidemic_typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO) MESH:D014437 MONDO:0000330 NCI:C84688 ORDO:83315 cat flea rickettsiosis endemic flea-borne typhus endemic typhus fever flea-borne rickettsiosis flea-borne typhus fleaborne typhus murine [endemic] typhus murine typhus rat-flea typhus rickettsia felis spotted fever shop typhus toulon typhus urban typhus urban typhus of Malaya rgd_disease_ontology DOID:0050481 endemic typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO) http://en.wikipedia.org/wiki/Murine_typhus A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO) rgd 2017-10-10T00:00:00Z MONDO:0000331 Rickettsia helvetica spotted fever rgd_disease_ontology DOID:0050484 aneruptive fever A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO) http://jcm.asm.org/cgi/reprint/42/2/816 http://www.cdc.gov/otherspottedfever/index.html A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO) GARD:120 MESH:C537582 Human Ehrlichial infection, Sennetsu type Sennetsu ehrlichiosis rgd_disease_ontology DOID:0050485 sennetsu fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO) https://rarediseases.org/rare-diseases/sennetsu-fever/ A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO) EFO:1000697 MESH:D005076 MONDO:0006547 NCI:C111884 NCI:C39594 exanthema rash skin rash rgd_disease_ontology DOID:0050486 exanthem A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO) https://en.wikipedia.org/wiki/Exanthem An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO) rgd 2017-10-23T00:00:00Z EFO:1000671 rgd_disease_ontology DOID:0050487 bacterial exanthem An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO) https://en.wikipedia.org/wiki/Scarlet_fever#Rash A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO) rgd_disease_ontology DOID:0050488 early congenital syphilis A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO) http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html A goiter characterized by a multinodular enlargement of the thyroid gland. (DO) MIM:PS138800 rgd_disease_ontology DOID:0050489 multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland. (DO) http://en.wikipedia.org/wiki/Multinodular_goitre A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO) rgd 2017-10-03T00:00:00Z MONDO:0000335 rgd_disease_ontology DOID:0050490 parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO) http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050491 meningovascular neurosyphilis A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO) http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO) EFO:1001320 ICD10CM:B08.2 ICD9CM:058.1 MESH:D005077 MONDO:0000337 NCI:C128420 exanthem subitum roseola infantum sixth disease rgd_disease_ontology DOID:0050495 exanthema subitum A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO) http://en.wikipedia.org/wiki/Exanthema_subitum https://www.ncbi.nlm.nih.gov/books/NBK448190/ A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions. (DO) rgd 2017-10-11T00:00:00Z ICD9CM:050.0 MONDO:0000338 ordinary smallpox rgd_disease_ontology DOID:0050508 variola major A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus (Orthopoxvirus variola). The infection results_in_formation_of lesions. (DO) https://stacks.cdc.gov/view/cdc/26503 https://www.cdc.gov/smallpox/hcp/clinical-signs/index.html https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox https://www.ncbi.nlm.nih.gov/books/NBK470418/ A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050513 spinal polio A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO) http://en.wikipedia.org/wiki/Poliomyelitis A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050514 bulbospinal polio A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO) http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050515 paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO) http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms https://www.sciencedirect.com/topics/neuroscience/paralytic-polio A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO) rgd 2017-10-31T00:00:00Z ICD10CM:A92.1 MONDO:0000342 O'nyong nyong fever O'nyong'nyong fever rgd_disease_ontology DOID:0050516 O'nyong-nyong fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO) http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false https://doi.org/10.1016/0035-9203(60)90025-0 https://ph.health.mil/PHC%20Resource%20Library/Onyong-nyongVirus_FS_18-087-0517.pdf https://pmc.ncbi.nlm.nih.gov/articles/PMC3293492/ https://pmc.ncbi.nlm.nih.gov/articles/PMC5694854/ A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO) rgd 2017-10-31T00:00:00Z RDO:9004309 rgd_disease_ontology DOID:0050517 Barmah Forest virus disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO) https://en.wikipedia.org/wiki/Barmah_Forest_virus https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO) rgd 2017-10-31T00:00:00Z Ross River virus disease rgd_disease_ontology DOID:0050518 Ross River fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO) http://en.wikipedia.org/wiki/Ross_River_fever https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO) rgd 2017-10-31T00:00:00Z ICD10CM:A93.0 MONDO:0000345 rgd_disease_ontology DOID:0050521 Oropouche fever A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO) http://en.wikipedia.org/wiki/Oropouche_fever https://pmc.ncbi.nlm.nih.gov/articles/PMC5923469/ https://wwwnc.cdc.gov/eid/article/13/6/06-1114_article A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO) rgd 2017-10-20T00:00:00Z MONDO:0000346 rgd_disease_ontology DOID:0050522 Balkan hemorrhagic fever A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO) https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO) GARD:13103 ICD10CM:C91.5 ICDO:9827/3 MESH:D015459 MONDO:0019471 ORDO:86875 ATLL Adult T-cell leukemia/lymphoma (HTLV-1 positive) HTLV I Associated T Cell Leukemia Lymphoma HTLV-I-Associated T-Cell Leukemia-Lymphomas HTLV-associated leukemia/lymphoma acute T-cell leukemia lymphoma, HTLV I associated adult T-cell leukemia adult T-cell leukemia-lymphomas adult T-cell leukemias human T lymphotropic virus associated leukemia lymphoma human T-cell leukemia lymphoma human T-cell leukemia-lymphomas rgd_disease_ontology DOID:0050523 adult T-cell leukemia/lymphoma A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO) http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma https://www.ncbi.nlm.nih.gov/books/NBK558968/ A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO) GARD:3697 MESH:C562772 MIM:PS125850 MONDO:0018911 NCI:C114769 ORDO:552 MODY Mason-type diabetes maturity-onset diabetes mellitus in young rgd_disease_ontology DOID:0050524 maturity-onset diabetes of the young A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO) http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO) MIM:137200 GARD:12353 MESH:D020386 NCI:C202012 ORDO:324442 ORDO:84142 AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA Continuous Myokymia Isaac Syndrome Isaacs Mertens Syndrome Isaacs Pseudomyotonia Syndrome Isaacs Syndrome Isaacs-Mertens Syndromes Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis NMAN Neuromyotonia Pseudomyotonia acquired neuromyotonia autosomal recessive neuromyotonia and axonal neuropathy continuous muscle activity syndrome continuous myokymias myokymia, myotonia and muscle wasting pseudomyotonia syndrome of Isaacs quantal squander syndrome of continuous muscle activity rgd_disease_ontology DOID:0050526 Gamstorp-Wohlfart syndrome A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO) http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO) MPLKIP-related condition MESH:C536556 MIM:234050 MONDO:0021013 NCI:C146899 ORDO:1245 Pollitt syndrome TTD4 TTDN1 nonphotosensitive trichothiodystrophy 1 trichorrhexis nodosa syndrome trichothiodystrophy-neurocutaneous syndrome trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt rgd_disease_ontology DOID:0050528 nonphotosensitive trichothiodystrophy 4 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO) https://ghr.nlm.nih.gov/condition/trichothiodystrophy A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO) MESH:C538417 MESH:C563948 MIM:271150 ORDO:83420 SMA4 spinal muscular atrophy 4 spinal muscular atrophy, adult form spinal muscular atrophy, proximal, adult, autosomal recessive spinal muscular atrophy, type IV rgd_disease_ontology DOID:0050529 adult spinal muscular atrophy A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO) https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO) rgd 2017-10-30T00:00:00Z MIM:253550 MONDO:0009673 NCI:C156310 ORDO:83418 SMA II SMA2 spinal muscular atrophy 2 spinal muscular atrophy, infantile chronic form spinal muscular atrophy, intermediate type spinal muscular atrophy, type 2 spinal muscular atrophy, type II rgd_disease_ontology DOID:0050530 intermediate spinal muscular atrophy A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO) https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO) MESH:C536122 MIM:PS310500 MONDO:0016293 ORDO:215 congenital essential nyctalopia congenital stationary night blindness, type 1 hemeralopia-myopia CSNB, complete, autosomal recessive CSNB, incomplete, X-linked CSNB, incomplete, autosomal recessive NBM1 nyctalopia X-linked CSNB X-linked congenital stationary night blindness XLCSNB congenital stationary night blindness, complete, autosomal recessive congenital stationary night blindness, dominant congenital stationary night blindness, recessive myopia-night blindness rgd_disease_ontology DOID:0050534 congenital stationary night blindness A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO) ORDO:215 http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 http://www.ncbi.nlm.nih.gov/books/NBK1245/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ http://www.omim.org/entry/610444 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO) rgd 2017-11-07T00:00:00Z GARD:1613 ICD10CM:H35.00 ICD9CM:362.10 MESH:D000080345 MIM:PS133780 ORDO:891 FEVR familial exudative vitreoretinopathy rgd_disease_ontology DOID:0050535 exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO) http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy true A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO) rgd 2017-09-20T00:00:00Z rgd_disease_ontology DOID:0050537 posterior polar cataract A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/ A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO) rgd 2017-09-18T00:00:00Z GARD:12433 MONDO:0019011 ORDO:65753 Charcot Marie Tooth disease, type I Charcot Marie Tooth, type 1 HMN distal type I HMSN I HMSN type I HMSN1 hereditary motor and sensory neuropathy type 1 hereditary type I motor and sensory neuropathy rgd_disease_ontology DOID:0050538 Charcot-Marie-Tooth disease type 1 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO) http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO) rgd 2017-10-18T00:00:00Z GARD:12431 ICD9CM:356.0 ORDO:64746 Charcot-Marie-Tooth disease, type II Charcot-Marie-Tooth, type 2 HMSN II HMSN type II hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 hereditary motor and sensory neuropathy type II rgd_disease_ontology DOID:0050539 Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO) PMID:25098539 http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO) rgd 2017-10-18T00:00:00Z PRX-RELATED CONDITION GARD:9204 MIM:145900 MONDO:0007790 NCI:C133087 ORDO:64748 CMT3 DSN DSS Dejerine Sottas disease Dejerine Sottas neuropathy Dejerine Sottas syndrome Dejerine-Sottas hypertrophic neuropathy Dejerine-Sottas neuropathy, autosomal dominant Dejerine-Sottas syndrome, autosomal dominant Dejerine-Sottas syndrome, autosomal recessive HMSN type III HMSN3 hereditary motor and sensory neuropathy 3 hereditary motor and sensory neuropathy type III hypertrophic neuropathy of Dejerine Sottas rgd_disease_ontology DOID:0050540 Charcot-Marie-Tooth disease type 3 A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO) https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO) rgd 2017-10-18T00:00:00Z GARD:12440 MONDO:0018995 ORDO:64749 Charcot-Marie-Tooth disease, type IV Charcot-Marie-Tooth, type 4 hereditary motor and sensory neuropathy 4 rgd_disease_ontology DOID:0050541 Charcot-Marie-Tooth disease type 4 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO) http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO) rgd 2017-10-18T00:00:00Z ORDO:64747 Charcot-Marie-Tooth neuropathy X Charcot-Marie-Tooth, X-linked rgd_disease_ontology DOID:0050542 Charcot-Marie-Tooth disease type X A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO) http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO) rgd 2017-10-18T00:00:00Z MONDO:0018778 ORDO:476123 Charcot-Marie-Tooth, intermediate Charcot-Marie-Tooth disease, autosomal dominant intermediate Charcot-Marie-Tooth disease, dominant intermediate Charcot-Marie-Tooth disease, recessive intermediate rgd_disease_ontology DOID:0050543 Charcot-Marie-Tooth disease intermediate type A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO) ORDO:93114 PMID:16775371 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO) EFO:0009069 MESH:C564683 MIM:250850 MONDO:0009607 NCI:C123435 ORDO:168598 Hepatic Methionine Adenosyltransferase Deficiency Hypermethioninemia, Isolated Persistent MAT DEFICIENCY MAT I/III DEFICIENCY MAT1A-RELATED CONDITION Methioninemia S-adenosylhomocysteine hydrolase deficiency deficiency of methionine adenosyltransferase methionine adenosyltransferase I/III deficiency methionine adenosyltransferase deficiency methionine adenosyltransferase deficiency, autosomal dominant methionine adenosyltransferase deficiency, autosomal recessive rgd_disease_ontology DOID:0050544 hypermethioninemia An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO) http://en.wikipedia.org/wiki/Hypermethioninemia A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO) GDF1-RELATED CONDITION GDF1-RELATED DISORDERS EFO:0009081 GARD:10875 MESH:D059446 MIM:PS306955 ORDO:450 Left Atrial Isomerism Left Atrial Isomerism with Polysplenia Polysplenia Syndrome Polysplenia Syndromes RAI asplenia syndrome asplenia syndromes asplenia with cardiovascular anomalies bilateral right-sidedness sequence heterotaxia heterotaxia syndrome heterotaxy syndrome heterotaxy syndromes left atrial isomerisms situs ambiguus situs ambiguus viscerum situs ambiguus viscerums situs ambiguus with asplenia situs ambiguus with polysplenia visceral heterotaxies HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE POLYASPLENIA VAH, autosomal recessive rgd_disease_ontology DOID:0050545 visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO) http://en.wikipedia.org/wiki/Situs_ambiguus An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO) MESH:C566131 MIM:613743 MESH:C566130 CONGENITAL ADRENAL INSUFFICIENCY WITH 46, XY SEX REVERSAL OR 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY CYP11A1-RELATED CONDITION P450scc deficiency congenital adrenal insufficiency, with 46,XY sex reversal congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete rgd_disease_ontology DOID:0050546 congenital adrenal insufficiency An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO) https://en.wikipedia.org/wiki/Adrenal_insufficiency A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO) EFO:1001957 MESH:C536911 MIM:155240 MONDO:0007958 ORDO:99361 FMTC MEN2A and FMTC MTC MTC1 familial medullary thyroid cancer rgd_disease_ontology DOID:0050547 familial medullary thyroid carcinoma A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO) MIM:155240 https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom. (DO) GARD:12688 ICD10CM:G60.8 MESH:D009477 MIM:PS162400 MONDO:0015364 OMIA:001514 ORDO:140471 HSAN HSAN (hereditary sensory autonomic neuropathy) HSN congenital sensory neuropathies congenital sensory neuropathy hereditary sensory and autonomic neuropathies hereditary sensory neuropathies hereditary sensory neuropathy hereditary sensory radicular neuropathy AMS acral mutilation syndrome hereditary sensory radicular neuropathy, autosomal dominant hereditary sensory radicular neuropathy, autosomal recessive hereditary sensory radicular neuropathy, recessive form rgd_disease_ontology DOID:0050548 hereditary sensory and autonomic neuropathy A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. Loss of pain and temperature sensation is an early and predominant, but not universal, symptom. (DO) PMID:23931820 PMID:31222456 true A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. (DO) PSMB8-related condition GARD:10988 GARD:3916 GARD:3917 MIM:256040 MONDO:0054698 NCI:C176619 ORDO:324999 ALDD CANDLE JMP syndrome NKJO Nakajo-Nishimura syndrome PRAAS1 autoinflammation, lipodystrophy, and dermatosis syndrome chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy proteasome-associated autoinflammatory syndrome 1, digenic rgd_disease_ontology DOID:0050553 proteasome-associated autoinflammatory syndrome 1 A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. (DO) PMID:21129723 PMID:21852578 PMID:21881205 https://www.nomidalliance.org/candle.php A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO) DOID:0060064 GARD:668 MESH:C536358 MIM:301310 MONDO:0010524 ORDO:2802 ABCB7-RELATED CONDITION ASAT Anemia, sideroblastic, spinocerebellar ataxia Pagon Bird Detter syndrome SCAX6 X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia XLSA-A sex-linked hypochromic sideroblastic anemia sideroblastic anemia and ataxia sideroblastic anemia and spinocerebellar ataxia sideroblastic anemia with spinocerebellar ataxia rgd_disease_ontology DOID:0050554 X-linked sideroblastic anemia with ataxia A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO) https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia true A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO) rgd 2017-10-17T00:00:00Z GARD:9138 ICD9CM:359.0 MONDO:0019950 ORDO:97242 CMD congenital muscular dystrophy, alpha-dystroglycan related rgd_disease_ontology DOID:0050557 congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO) http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO) COL6A1-RELATED DISORDER GARD:4769 MESH:C537521 MIM:PS254090 MONDO:0000355 NCI:C123438 OMIA:001967 ORDO:75840 UCMD Ullrich disease Ullrich scleroatonic muscular dystrophy late onset scleroatonic familial myopathy muscular dystrophy, Ullrich type scleroatonic muscular dystrophy Ullrich congenital muscular dystrophy, autosomal dominant Ullrich congenital muscular dystrophy, autosomal recessive Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2 rgd_disease_ontology DOID:0050558 Ullrich congenital muscular dystrophy A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO) https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO) GARD:6475 MIM:253800 NCI:C126741 ORDO:272 FCMD Fukuyama CMD Fukuyama Syndrome Fukuyama muscular dystrophy Fukuyama type cerebromuscular dystrophy Fukuyama type congenital muscular dystrophy MDDGA4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related Walker-Warburg syndrome, FKTN-related muscular dystrophy due to defective glycosylation of dystroglycan 4A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4 rgd_disease_ontology DOID:0050559 Fukuyama congenital muscular dystrophy A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO) https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO) GARD:2599 MESH:D058494 ORDO:899 Chemke syndrome MEB (Muscle-Eye-Brain) Syndrome Muscle Eye Brain Disease Muscle-Eye-Brain Diseases Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation Pagon syndrome Pagon syndromes Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related Warburg syndrome alpha dystroglycanopathies WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY rgd_disease_ontology DOID:0050560 Walker-Warburg syndrome A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO) https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO) MESH:C535500 MIM:606369 GARD:9912 MESH:D065768 NCI:C84816 ORDO:2382 Lennox syndrome Lennox-Gastaut syndromes childhood epileptic encephalopathy with diffuse slow spikes and waves epileptic encephalopathy, Lennox-Gastaut type macrocephaly and epileptic encephalopathy rgd_disease_ontology DOID:0050561 Lennox-Gastaut syndrome A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO) https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO) rgd 2017-10-18T00:00:00Z OMIA:001471 GARD:7887 MESH:D013036 NCI:C84788 ORDO:3451 Cryptogenic Infantile Spasm Cryptogenic West Syndrome Hypsarrhythmia Infantile Spasm Infantile Spasms Jackknife Seizure Jackknife Seizures Lightning Attack Lightning Attacks Nodding Spasm Nodding Spasms Salaam Attacks Salaam Seizures Spasmus Nutans Symptomatic Infantile Spasm cryptogenic infantile spasms hypsarrhythmias symptomatic West syndrome symptomatic infantile spasms EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE Neonatal encephalopathy with seizures rgd_disease_ontology Infantile spasms syndrome DOID:0050562 West syndrome An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO) PMID:24268986 https://rarediseases.org/rare-diseases/west-syndrome/ An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO) EFO:0009076 MESH:C580334 Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss isolated deafness nonsyndromic hearing loss and deafness undifferentiated deafness NONSYNDROMIC GENETIC HEARING LOSS NONSYNDROMIC PROFOUND HEARING LOSS non-syndromic genetic deafness nonsyndromic hearing loss and deafness, autosomal recessive nonsyndromic hereditary hearing loss rgd_disease_ontology DOID:0050563 nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO) http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO) rgd 2017-10-03T00:00:00Z MIM:PS124900 ORDO:90635 AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS autosomal dominant deafness DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS rgd_disease_ontology DOID:0050564 autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO) http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO) rgd 2017-10-03T00:00:00Z MIM:607197 MESH:C564609 MIM:PS220290 AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB NON-SYNDROMIC AUTOSOMAL RECESSIVE HEARING LOSS autosomal recessive deafness rgd_disease_ontology DOID:0050565 OMIM:607197 is an older phenotype record for this disease. autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO) http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO) rgd 2017-11-07T00:00:00Z MIM:PS304500 ORDO:90625 X-linked deafness rgd_disease_ontology DOID:0050566 X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO) http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO) rgd 2017-03-22T00:00:00Z MIM:PS119530 MONDO:0000358 CLEFT LIP/PALATE OFC cleft lip or cleft palate nonsyndromic cleft lip/palate nonsyndromic orofacial cleft orofacial clefting orofacial clefts FACIAL CLEFT INCOMPLETE UNILATERAL CLEFT LIP AND PALATE MEDIAN CLEFT LIP AND PALATE UNILATERAL CLEFT LIP AND PALATE rgd_disease_ontology DOID:0050567 orofacial cleft A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO) https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO) rgd 2017-11-07T00:00:00Z GARD:12174 GARD:6798 MIM:PS277300 NCI:C125598 ORDO:1797 ORDO:2311 costovertebral segmentation anomalies spondylothoracic dysplasia rgd_disease_ontology DOID:0050568 spondylocostal dysostosis A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO) http://en.wikipedia.org/wiki/Spondylocostal_dysostosis http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO) rgd 2017-11-07T00:00:00Z GARD:8562 MIM:PS210600 NCI:C125488 ORDO:808 Harper's syndrome SCKL Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism rgd_disease_ontology DOID:0050569 Seckel syndrome A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO) http://en.wikipedia.org/wiki/Seckel_syndrome A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO) rgd 2016-11-01T00:00:00Z EFO:0005545 MIM:PS212065 congenital disorder of glycosylation type 1 rgd_disease_ontology DOID:0050570 congenital disorder of glycosylation type I A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO) http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO) rgd 2016-11-01T00:00:00Z EFO:0005546 MESH:C535747 MIM:PS212066 MONDO:0005501 CDG II CDGII congenital disorder of glycosylation type 2 rgd_disease_ontology DOID:0050571 congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO) http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO) EFO:0020029 GARD:10790 MESH:D000071700 MIM:PS120970 ORDO:1872 CORD CRD cone rod degenerations cone rod retinal dystrophy cone-rod degeneration cone-rod dystrophies cone-rod retinal dystrophies LATE-ONSET CONE-ROD DYSTROPHY autosomal recessive cone rod dystrophy cone-rod dystrophy, dominant cone-rod dystrophy, recessive rgd_disease_ontology DOID:0050572 cone-rod dystrophy A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO) http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO) OMIA:001371 GARD:10761 MESH:C535306 NCI:C128187 ORDO:19 2-Hga 2-hydroxyglutaricaciduria rgd_disease_ontology DOID:0050573 2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO) http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO) rgd 2017-10-30T00:00:00Z GARD:10472 MIM:236792 MONDO:0009370 ORDO:79314 L-2-hydroxyglutaric acidemia L-2-hydroxyglutaricacidemia L2HGA L2HGDH-RELATED CONDITION rgd_disease_ontology DOID:0050574 L-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO) http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO) rgd 2017-10-30T00:00:00Z GARD:5661 MIM:PS600721 D-2-alpha hydroxyglutaric aciduria D2HGA rgd_disease_ontology DOID:0050575 D-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO) http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO) GARD:322 MESH:C537580 MIM:PS266900 MONDO:0017842 NCI:C168588 ORDO:3156 Senior-Løken syndrome juvenile nephronophthisis with Leber amaurosis renal dysplasia and retinal aplasia renal dysplasia retinal aplasia renal-retinal syndrome rgd_disease_ontology DOID:0050576 Senior-Loken syndrome A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO) https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO) MESH:C562966 MIM:PS218330 MONDO:0009032 NCI:C129305 ORDO:1515 Levin syndrome Sensenbrenner syndrome rgd_disease_ontology DOID:0050577 cranioectodermal dysplasia A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO) PMID:20817137 https://en.wikipedia.org/wiki/Sensenbrenner_syndrome A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO) RP1L1-related condition MIM:613587 MONDO:0013316 ORDO:247834 OCCULT MACULOPATHY OCMD OMD rgd_disease_ontology DOID:0050578 occult macular dystrophy A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO) http://www.iovs.org/content/41/2/513.full.pdf A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO) MIM:613507 MONDO:0013291 ORDO:263297 GSD XV GSD15 GYG1 deficiency glycogen storage disease 15 glycogen storage disease type XV glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenin deficiency rgd_disease_ontology DOID:0050579 glycogen storage disease XV A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO) MIM:613507 A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO) rgd 2017-10-31T00:00:00Z MESH:C565432 GARD:7220 ICD9CM:757.0 MIM:PS153100 PCL congenital familial lymphedema congenital hereditary lymphedema congenital hereditary lymphedemas hereditary lymphedemas primary congenital lymphedema primary congenital lymphedemas congenital recessive lymphedema rgd_disease_ontology DOID:0050580 hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO) http://en.wikipedia.org/wiki/Milroy%27s_disease A dysostosis characterized by short fingers and toes. (DO) GARD:11913 MESH:D059327 MONDO:0021004 ORDO:294937 brachydactylia brachydactylias brachydactylism rgd_disease_ontology DOID:0050581 brachydactyly A dysostosis characterized by short fingers and toes. (DO) http://en.wikipedia.org/wiki/Brachydactyly A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO) rgd 2017-10-11T00:00:00Z RDO:9002603 rgd_disease_ontology DOID:0050584 gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO) PMID:31437386 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO) EFO:1000681 GARD:13388 MESH:D052497 MIM:PS608594 ORDO:528 Berardinelli Seip congenital lipodystrophy Berardinelli Seip syndrome Berardinelli syndrome Brunzell Syndrome (with Bone Cysts) Brunzell syndrome Seip syndrome congenital generalized lipodystrophies congenital lipoatrophic diabetes generalized lipodystrophies generalized lipodystrophy total lipodystrophies total lipodystrophy rgd_disease_ontology DOID:0050585 congenital generalized lipodystrophy A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO) https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO) MIM:613229 GARD:7803 MESH:D014256 TTM trichotillomanias rgd_disease_ontology DOID:0050587 trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO) https://en.wikipedia.org/wiki/Trichotillomania A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO) rgd 2017-10-31T00:00:00Z DOID:9001544 MIM:613155 CMD due to dystroglycanopathy MDDGB1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH INTELLECTUAL DISABILITY), TYPE B1 Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 congenital muscular dystrophy, POMT1-related congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1 rgd_disease_ontology DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO) MIM:613155 An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO) EFO:0003767 MESH:D015212 MIM:PS266600 MIM:PS614328 MONDO:0005265 NCI:C3138 inflammatory bowel diseases VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE early-onset inflammatory bowel disease ulcerative colitis rgd_disease_ontology CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO Inflammatory bowel disease 1, susceptibility to DOID:0050589 inflammatory bowel disease An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO) http://en.wikipedia.org/wiki/Inflammatory_bowel_disease http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO) rgd 2016-01-14T00:00:00Z GARD:13592 MIM:PS202700 MONDO:0018542 ORDO:42738 ORDO:486 ORDO:86788 congenital neutropenia primary neutropenia severe infantile genetic agranulocytosis severe infantile genetic neutropenia rgd_disease_ontology DOID:0050590 severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO) PMID:17133096 https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia A tooth disease characterized by failure to develop one or more missing teeth. (DO) rgd 2017-10-31T00:00:00Z EFO:0005410 MIM:147330 MIM:PS106600 MONDO:0005486 NCI:C172328 ORDO:2227 ORDO:99798 familial tooth agenesis hypodontia oligodontia reduced number of teeth selective tooth agenesis rgd_disease_ontology DOID:0050591 tooth agenesis A tooth disease characterized by failure to develop one or more missing teeth. (DO) http://en.wikipedia.org/wiki/Hypodontia A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO) MESH:D012779 MIM:PS208500 NCI:C84794 ORDO:1505 ORDO:474 Jeune syndrome Jeune thoracic dysplasia Jeune thoracic dystrophy Jeune's syndrome asphyxiating thoracic dystrophy (ATD) short rib polydactyly syndrome, Majewski type short rib-polydactyly syndrome short rib-polydactyly syndromes short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy GRK2-RELATED JEUNE SYNDROME short ribs rgd_disease_ontology DOID:0050592 asphyxiating thoracic dystrophy A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO) https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO) rgd 2017-11-08T00:00:00Z NCI:C150251 rgd_disease_ontology DOID:0050593 primary congenital glaucoma A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO) https://ghr.nlm.nih.gov/condition/early-onset-glaucoma A glycogen storage disease characterized by deficiency of phosphorylase kinase (PhK) activity. (DO) DOID:2751 EFO:1000952 MESH:C580130 MESH:D006015 MONDO:0700291 NCI:C122662 ORDO:370 GSD VIII GSD8 GSD9 Glycogen storage disease 9 Gsd Ix Gsdix Phk Deficiency Phosphorylase B Kinase Deficiency glycogen storage disease 8 glycogen storage disease VIII glycogen storage disease type VIII glycogenosis 8 glycogenosis type IX glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency hepatic phosphorylase kinase deficiency phosphorylase kinase deficiency phosphorylase kinase deficiency of liver rgd_disease_ontology DOID:0050594 glycogen storage disease IX A glycogen storage disease characterized by deficiency of phosphorylase kinase (PhK) activity. (DO) PMID:17689125 PMID:25266922 glycogen storage disease 8 ` phosphorylase kinase deficiency 1 A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO) EFO:1001433 ICD10CM:B68.1 ICD9CM:123.2 MESH:D013622 MONDO:0000367 beef tapeworm infection infection by Taeniarhynchus saginatus taenia infection taenia infections taenia saginata infectious disease rgd_disease_ontology DOID:0050596 taeniasis A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO) http://en.wikipedia.org/wiki/Taeniasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO) rgd 2017-11-08T00:00:00Z EFO:1001419 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 NCI:C35364 ORDO:1247 intestinal schistosomiases rgd_disease_ontology DOID:0050597 intestinal schistosomiasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO) http://en.wikipedia.org/wiki/Schistosomiasis A tuberculosis that occurs at body sites other than the lung. (DO) rgd 2017-10-27T00:00:00Z MESH:D000092225 rgd_disease_ontology DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. (DO) https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO) rgd 2017-10-27T00:00:00Z rgd_disease_ontology DOID:0050599 abdominal tuberculosis An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO) https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO) MESH:C535334 MIM:600501 MONDO:0010895 ORDO:918 ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness rgd_disease_ontology DOID:0050600 ABCD syndrome A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO) MIM:600501 http://en.wikipedia.org/wiki/ABCD_syndrome A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO) GARD:384 MESH:C538052 MIM:103285 MONDO:0007072 ORDO:978 acro-dermato-ungual-lacrimal-tooth syndrome pigment anomaly ectrodactyly hypodontia propping Zerres syndrome rgd_disease_ontology DOID:0050601 ADULT syndrome A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO) PMID:16114047 A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO) MIM:231550 EFO:1001997 GARD:457 MESH:C536008 MONDO:0009279 NCI:C35710 ORDO:869 AAA syndrome AAAS AAAS-RELATED CONDITION ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME Achalasia Addisonianism Alacrimia Syndrome Achalasia alacrimia syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Alacrima-Achalasia-Addisonianism Alacrima-achalasia-adrenal insufficiency neurologic disorder Allgrove syndrome GLUCOCORTICOID DEFICIENCY WITH ACHALASIA achalasia-addisonianism-alacrima syndrome glucocorticoid deficiency and achalasia hypoadrenalism with achalasia infantile achalasia with alacrima ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME rgd_disease_ontology DOID:0050602 triple-A syndrome A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO) https://ghr.nlm.nih.gov/condition/triple-a-syndrome An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO) MIM:200500 GARD:376 MESH:C536014 ORDO:931 ACHP Brazilian type acheiropody Horn-Kolb syndrome acheiropodia rgd_disease_ontology DOID:0050603 acheiropody An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO) https://en.wikipedia.org/wiki/Acheiropodia An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35. (DO) IHH-related condition IHH-related disorders GARD:10605 MESH:C564334 MIM:607778 MONDO:0011907 ORDO:63446 ACFD rgd_disease_ontology DOID:0050604 acrocapitofemoral dysplasia An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35. (DO) PMID:34530144 https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO) SLC39A4-related condition GARD:5723 MESH:C538178 MIM:201100 MONDO:0008713 NCI:C128802 ORDO:37 AEZ Acrodermatitis enteropathica zinc deficiency type hereditary acrodermatitis enteropathica rgd_disease_ontology DOID:0050605 acrodermatitis enteropathica A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO) https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO) rgd 2017-10-20T00:00:00Z ATP2A2-RELATED CONDITION EFO:1000666 MIM:101900 MONDO:0007048 ORDO:79151 AKV Hopf acrokeratosis verruciformis Hopf disease acrokeratosis verruciformis of Hopf rgd_disease_ontology DOID:0050606 acrokeratosis verruciformis A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO) https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO) EFO:1000095 MESH:C563168 MONDO:0006094 NCI:C7542 Askin tumor Askin tumour Askin's tumour PNET of thoracopulmonary region rgd_disease_ontology DOID:0050608 Askin's tumor An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO) https://en.wikipedia.org/wiki/Askin%27s_tumor An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO) rgd 2017-10-25T00:00:00Z rgd_disease_ontology DOID:0050610 oral cavity carcinoma in situ An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO) https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO) rgd 2017-10-25T00:00:00Z MONDO:0000372 rgd_disease_ontology DOID:0050611 pharynx carcinoma in situ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO) https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO) rgd 2017-10-25T00:00:00Z gall bladder carcinoma in situ rgd_disease_ontology DOID:0050612 gallbladder carcinoma in situ An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO) https://en.wikipedia.org/wiki/Gallbladder_cancer https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO) rgd 2017-10-25T00:00:00Z MONDO:0000374 rgd_disease_ontology DOID:0050613 bile duct carcinoma in situ An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO) https://en.wikipedia.org/wiki/Cholangiocarcinoma An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO) rgd 2017-10-25T00:00:00Z RDO:9003570 rgd_disease_ontology DOID:0050614 bronchus carcinoma in situ An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO) PMID:10858385 An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO) rgd 2017-09-22T00:00:00Z MONDO:0000376 rgd_disease_ontology DOID:0050615 respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO) http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm true A respiratory system cancer that is located_in the paranasal sinuses. (DO) rgd 2017-09-28T00:00:00Z EFO:1000454 MONDO:0020669 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 adenoid cystic carcinoma of accessory sinus cancer of paranasal sinus carcinoma of accessory sinus carcinoma of paranasal sinus mucoepidermoid carcinoma of accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus cancers paranasal sinus mucoepidermoid carcinoma rgd_disease_ontology adenoid cystic carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. (DO) http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO) rgd 2017-09-18T00:00:00Z MONDO:0000381 rgd_disease_ontology DOID:0050620 infiltrating renal pelvis transitional cell carcinoma A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO) https://en.wikipedia.org/wiki/Transitional_cell_carcinoma An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO) MONDO:0000382 rgd_disease_ontology DOID:0050621 respiratory system benign neoplasm An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO) http://en.wikipedia.org/wiki/Respiratory_system An organ system benign neoplasm that is located_in reproductive system organs. (DO) rgd_disease_ontology DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. (DO) http://en.wikipedia.org/wiki/Reproductive_system A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0050623 bladder benign neoplasm A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ An organ system benign neoplasm located_in gastrointestinal tract organs. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. (DO) http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A hepatobiliary benign neoplasm located_in the biliary tract. (DO) EFO:0003891 MESH:D001661 NCI:C4441 biliary tract neoplasms extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct rgd_disease_ontology DOID:0050625 biliary tract benign neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. (DO) http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO) gastrointestinal neuroendocrine tumour malignant gastrointestinal neuroendocrine tumor malignant gastrointestinal neuroendocrine tumour rgd_disease_ontology DOID:0050626 gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO) http://en.wikipedia.org/wiki/Neuroendocrine_tumor http://www.cancer.gov/dictionary?CdrID=44904 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO) MESH:D020178 MIM:PS604348 ORDO:164736 Shift Work Sleep Disorder Shift-Work Sleep Disorders circadian rhythm sleep disorders disturbed nyctohemeral rhythm disturbed nyctohemeral rhythms familial advanced sleep-phase syndrome non 24 hour sleep wake disorder nonorganic sleep wake cycle disorders sleep wake cycle disorders sleep wake schedule disorders sleep-wake cycle disorder sleep-wake schedule disorder rgd_disease_ontology DOID:0050628 advanced sleep phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO) http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO) GARD:575 ICD10CM:G31.8 MESH:C535607 MIM:PS225750 NCI:C206077 ORDO:51 AGS Cree encephalitis encephalopathy with basal ganglia calcification familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis pseudotoxoplasmosis syndrome rgd_disease_ontology DOID:0050629 Aicardi-Goutieres syndrome A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO) MIM:225750 http://www.ncbi.nlm.nih.gov/books/NBK1475/ https://agsaa.org/about-ags An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO) GARD:10574 MESH:C562664 MIM:300600 MONDO:0010371 ORDO:178333 AIED Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism ocular albinism, type II rgd_disease_ontology DOID:0050630 Aland Island eye disease An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO) MIM:300600 A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO) GARD:5617 MESH:C537047 MIM:300523 MONDO:0010354 NCI:C118843 ORDO:59 AHDS Allan-Herndon syndrome MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency Monocarboxylate Transporter 8 (Mct8) Deficiency Monocarboxylate transporter-8 deficiency SLC16A2-RELATED CONDITION T3 resistance X-linked mental retardation with hypotonia mental retardation and muscular atrophy triiodothyronine resistance rgd_disease_ontology DOID:0050631 Allan-Herndon-Dudley syndrome A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO) MIM:300523 http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO) GARD:10958 MESH:D016115 MIM:PS203100 ORDO:55 tyrosinase-negative albinism tyrosinase-positive albinism yellow mutant albinism rgd_disease_ontology DOID:0050632 oculocutaneous albinism A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO) http://en.wikipedia.org/wiki/Oculocutaneous_albinism http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO) DOID:9005467 MESH:C537863 MIM:300500 GPR143-RELATED CONDITION MESH:D016117 NCI:C118785 ORDO:284804 ORDO:54 Nettleship-Falls type ocular albinism OA1 Ocular Albinism Type 1 ocular albinism ocular albinism type I rgd_disease_ontology DOID:0050633 ocular albinism 1 An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO) https://ghr.nlm.nih.gov/condition/ocular-albinism An alopecia characterized by the complete loss of hair on the scalp and body. (DO) HR-related condition GARD:614 MESH:C537055 MIM:203655 MONDO:0800198 ORDO:701 ALUNC alopecia universalis congenita generalized atrichia rgd_disease_ontology DOID:0050634 alopecia universalis An alopecia characterized by the complete loss of hair on the scalp and body. (DO) https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO) GARD:11 ICD10CM:G98 MESH:C536589 MIM:PS104290 ORDO:2131 AHC alternating hemiplegia alternating hemiplegia syndrome rgd_disease_ontology DOID:0050635 alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO) http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO) GARD:8282 MESH:C538249 MIM:105200 MONDO:0007099 ORDO:85450 AMYLD2 FAMILIAL VISCERAL AMYLOIDOSIS, OSTERTAG TYPE German type amyloidosis Ostertag type amyloidosis amyloidosis 8 amyloidosis VIII familial renal amyloidosis familial visceral amyloidosis systemic nonneuropathic amyloidosis AFIB AMYLOIDOSIS cardiac and cutaneous amyloidosis rgd_disease_ontology DOID:0050636 hereditary systemic amyloidosis 2 An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO) https://en.wikipedia.org/wiki/Familial_renal_amyloidosis An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO) GSN-related condition GARD:2339 MESH:C537459 MIM:105120 MONDO:0007097 ORDO:85448 AGel amyloidosis Finnish type familial amyloid neuropathy Kymenlaakso syndrome LCD2 Meretoja syndrome Meretoja type amyloidosis Meretoja's syndrome amyloid cranial neuropathy with lattice corneal dystrophy amyloidosis 5 amyloidosis V amyloidosis due to mutant gelsolin cerebral amyloid angiopathy, GSN-related familial amyloid polyneuropathy type IV familial amyloidosis, Finnish type gelsolin amyloidosis gelsolin-related amyloidosis lattice corneal dystrophy associated with familial systemic amyloidosis lattice corneal dystrophy, Gelsolin type lattice corneal dystrophy, type II lattice dystrophy of the cornea with hereditary generalized amyloidosis rgd_disease_ontology DOID:0050637 Finnish type amyloidosis An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO) https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO) DOID:0050761 EFO:0004129 GARD:656 ICD10CM:E85.82 MESH:C567782 MIM:105210 MONDO:0971004 ORDO:271861 ORDO:85447 ATTR amyloidosis ATTRm amyloidosis Corino de Andrade's disease TTR amyloidosis amyloidogenic transthyretin amyloidosis familial transthyretin amyloidosis familial transthyretin cardiac amyloidosis hereditary amyloidosis, transthyretin-related paramyloidosis transthyretin amyloidosis AMYLOID POLYNEUROPATHY, FAMILIAL AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED amyloid cardiomyopathy, transthyretin-related leptomeningeal FAP amyloidosis, transthyretin-related rgd_disease_ontology hereditary amyloidosis, transthyretin-related, modifier of DOID:0050638 hereditary systemic amyloidosis 1 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO) PMID:19372706 http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis http://www.ncbi.nlm.nih.gov/books/NBK1194/ http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 https://www.ncbi.nlm.nih.gov/books/NBK1194/ An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO) MESH:C562643 GARD:132 MESH:C562642 MIM:PS105250 ORDO:137807 ORDO:353220 Amyloidosis IX PCA familial cutaneous lichen amyloidosis familial lichen amyloidosis familial primary localized cutaneous amyloidosis primary localized cutaneous amyloidosis rgd_disease_ontology DOID:0050639 primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO) PMID:19663869 An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO) GARD:9657 MESH:C538256 MIM:607095 MONDO:0054560 ANXD ANXD1 Spondylometaepiphyseal dysplasia, Anauxetic type Spondylometaepiphyseal dysplasia, Menger type rgd_disease_ontology DOID:0050640 anauxetic dysplasia 1 An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO) PMID:16252239 https://www.ncbi.nlm.nih.gov/books/NBK84550/ A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO) RHAG-related condition GARD:12916 MESH:C562717 MESH:C564833 MIM:268150 MONDO:0019107 ORDO:71275 RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE RH-mod syndrome RHN Rh-null disease Rh-null syndrome Rh-null, regulator type RH-MOD RHD negative rgd_disease_ontology DOID:0050641 Rh deficiency syndrome A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO) PMID:3103426 https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome A microcytic anemia characterized by paler than normal blood cells. (DO) MESH:C536357 MONDO:0000387 rgd_disease_ontology HEMOGLOBIN CHARTRES DOID:0050642 hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells. (DO) http://en.wikipedia.org/wiki/Hypochromic_anemia true A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO) GARD:8380 MESH:C537440 MIM:PS208000 ORDO:51608 GACI IIAC generalized arterial calcification in infancy generalized arterial calcification, of infancy idiopathic infantile arterial calcification infantile arteriosclerosis occlusive infantile arteriopathy ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY rgd_disease_ontology DOID:0050644 arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO) http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification http://www.omim.org/entry/208000 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO) MIM:208050 GARD:774 MESH:C565942 ORDO:3342 ATS SLC2A10-RELATED CONDITION arterial tortuosity rgd_disease_ontology DOID:0050645 arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO) http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO) rgd 2017-11-08T00:00:00Z GARD:786 MIM:PS108120 ORDO:1147 ORDO:97120 distal arthrogryposis multiplex congenita DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT rgd_disease_ontology DOID:0050646 distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO) http://en.wikipedia.org/wiki/Arthrogryposis An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO) GARD:8756 MESH:C535388 MIM:301835 MONDO:0010533 ORDO:1187 ARTS MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision lethal ataxia with deafness and optic atrophy lethal ataxia-deafness-optic atrophy syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type rgd_disease_ontology DOID:0050647 Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO) ORDO:1187 PMID:20301738 http://ghr.nlm.nih.gov/condition/arts-syndrome http://www.ncbi.nlm.nih.gov/books/NBK2591/ http://www.omim.org/entry/301835 An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO) rgd 2017-11-08T00:00:00Z MIM:PS108720 rgd_disease_ontology DOID:0050648 atelosteogenesis An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO) https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17 https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1 A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO) MIM:209300 GARD:9595 MESH:C538259 NCI:C125693 ORDO:1195 Congenital Atransferrinemia Familial hypotransferrinemia TF-RELATED CONDITION rgd_disease_ontology TRANSFERRIN VARIANT CHI DOID:0050649 atransferrinemia A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO) MIM:209300 PMID:29969719 https://en.wikipedia.org/wiki/Atransferrinemia An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO) rgd 2017-11-08T00:00:00Z GARD:9740 MIM:PS608583 ORDO:334 ATFB familial atrial fibrillations rgd_disease_ontology DOID:0050650 familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO) http://en.wikipedia.org/wiki/Familial_atrial_fibrillation A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO) MIM:606215 GARD:802 ICD10CM:Q21.2 ICD9CM:745.6 MESH:C562831 MIM:PS606215 NCI:C101029 ORDO:98722 AVC defect AVCD AVSD Atrioventricular Canal Defect ECD endocardial cushion defect AVSD1 atrioventricular septal defect, somatic atrioventricular septal defect, susceptibility to, 1 rgd_disease_ontology DOID:0050651 atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO) http://en.wikipedia.org/wiki/Atrioventricular_septal_defect http://www.cdc.gov/ncbddd/heartdefects/avsd.html A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO) MIM:218600 GARD:1602 MESH:C536788 ORDO:1223 ORDO:1225 BGS craniosynostosis with radial defects craniosynostosis-radial aplasia syndrome rgd_disease_ontology DOID:0050654 Baller-Gerold syndrome A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO) http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome http://www.ncbi.nlm.nih.gov/books/NBK1204/ A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO) MIM:241850 FOXE1-RELATED DISORDER MESH:C537901 ORDO:1226 BAMLAZ Bamforth syndrome Hypothyroidism cleft palate athyroidal hypothyroidism with spiky hair and cleft palate hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate thyroidal hypothyroidism with spiky hair and cleft palate rgd_disease_ontology DOID:0050655 Bamforth-Lazarus syndrome A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO) https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO) MESH:C537905 GARD:12426 MIM:251290 ORDO:1229 BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome Microcephaly intracranial calcification OCLN-RELATED DISORDER PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome rgd_disease_ontology DOID:0050656 pseudo-TORCH syndrome 1 A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO) PMID:20727516 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO) rgd 2017-10-19T00:00:00Z DOID:0080191 MESH:C566636 OMIA:001515 GARD:12800 GARD:5887 GARD:6901 ICD10CM:Q85.81 ICDO:9493/0 MESH:D006223 MIM:158350 MONDO:0008021 NCI:C179915 NCI:C179930 NCI:C3939 NCI:C8419 ORDO:109 ORDO:137608 ORDO:306498 ORDO:65285 BZS CS CWS1 Multiple Hamartoma Syndrome PHTS PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome with granular cell tumor PTEN hamartoma tumour syndrome RMSS macrocephaly, multiple lipomas and hemangiomata macrocephaly, pseudopapilledema and multiple hemangiomas macrocephaly, pseudopapilledema, and multiple hemangiomata multiple hamartoma syndromes BRRS Bannayan-Riley-Ruvalcaba syndrome Bannayan-Zonana syndrome Colorectal hamartomatous polyposis and ganglioneuromatosis Lhermitte-Duclos disease MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM Proteus-like syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome SOLAMEN syndrome cerebellar granule cell hypertrophy and megalencephaly cerebelloparenchymal disorder VI dysplastic cerebellar gangliocytoma dysplastic gangliocytoma of cerebellum segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome rgd_disease_ontology HAMARTOMATOUS POLYPOSIS DOID:0050657 Cowden syndrome 1 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO) PMID:31062505 PMID:41215730 https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome https://www.ncbi.nlm.nih.gov/books/NBK1488/ A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO) MIM:149200 MESH:C537210 ORDO:2698 BAPS knuckle pads, leukonychia, and sensorineural deafness knuckle pads, leukonychia, deafness, and keratosis palmoplantaris rgd_disease_ontology DOID:0050658 Bart-Pumphrey syndrome A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO) https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO) MESH:C537658 MIM:607483 MONDO:0011841 NCI:C212885 ORDO:263410 ORDO:65284 BBGD BBTGD BTBGD ENCEPHALOPATHY, THIAMINE-RESPONSIVE THMD2 biotin ganglia disease, biotin-thiamine responsive biotin-thiamine-responsive basal ganglia disease thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) rgd_disease_ontology DOID:0050659 biotin-responsive basal ganglia disease A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO) https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease https://www.ncbi.nlm.nih.gov/books/NBK169615/ A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO) MIM:123790 GARD:332 MESH:C565129 NCI:C123813 ORDO:1555 BSTVS Beare-Stevenson syndrome cutis gyrata syndrome of Beare and Stevenson cutis gyrata syndrome of Beare-Stevenson rgd_disease_ontology DOID:0050660 Beare-Stevenson cutis gyrata syndrome A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO) https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO) GARD:10120 MESH:D057826 MIM:PS153840 NCI:C118788 ORDO:1243 ORDO:99000 juvenile-onset vitelliform macular dystrophy vitelliform dystrophy vitelliform macular dystrophies rgd_disease_ontology DOID:0050661 vitelliform macular dystrophy A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO) http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO) GARD:10301 MESH:C567518 MIM:611809 MONDO:0012733 OMIA:001444 OMIA:001553 OMIA:001554 ORDO:139455 ARB autosomal recessive bestrophinopathy Multifocal retinopathy 1 Multifocal retinopathy 2 Multifocal retinopathy 3 rgd_disease_ontology DOID:0050662 bestrophinopathy A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO) MIM:611809 PMID:24859690 PMID:25545482 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly. (DO) GARD:873 MESH:C535436 MIM:PS158810 MONDO:0008029 ORDO:610 Benign Congenital Muscular Dystrophy Benign Congenital Myopathy with Contractures BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE rgd_disease_ontology DOID:0050663 Bethlem myopathy A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly. (DO) https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO) MIM:210370 GARD:10050 MESH:C535440 NCI:C179299 ORDO:41751 BCD Bietti Crystalline Dystrophy Bietti Crystalline Retinopathy Bietti tapetoretinal degeneration with marginal corneal dystrophy Bietti's crystalline corneoretinal dystrophy Bietti's crystalline dystrophy CYP4V2-RELATED CONDITION CYP4V2-related disorder rgd_disease_ontology DOID:0050664 Bietti crystalline corneoretinal dystrophy A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO) https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO) rgd 2017-10-23T00:00:00Z ICD10CM:Q86.0 MONDO:0016011 NCI:C84713 ORDO:1915 rgd_disease_ontology DOID:0050665 fetal alcohol syndrome A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO) http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome http://www.cdc.gov/ncbddd/fasd/facts.html A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0050666 partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO) http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO) rgd 2017-10-23T00:00:00Z ARND static encephalopathy rgd_disease_ontology DOID:0050667 alcohol-related neurodevelopmental disorder A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO) http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO) MESH:C576203 MONDO:0000395 ARBD alcohol fetopathy alcohol-related birth defect rgd_disease_ontology DOID:0050668 alcohol-related birth defects A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO) http://www.cdc.gov/ncbddd/fasd/facts.html A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO) rgd 2017-10-24T00:00:00Z spastic cerebral palsies rgd_disease_ontology DOID:0050669 spastic cerebral palsy A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO) http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO) GARD:10451 MESH:C562856 MIM:605388 MONDO:0000397 ACP ataxic cerebral palsy, autosomal recessive hypotonic cerebral palsy rgd_disease_ontology DOID:0050670 ataxic cerebral palsy A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO) http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html A breast cancer that develops from breast tissue in females. (DO) rgd 2017-08-31T00:00:00Z rgd_disease_ontology DOID:0050671 female breast cancer A breast cancer that develops from breast tissue in females. (DO) PMID:24703317 PMID:25002350 https://en.wikipedia.org/wiki/Breast_cancer A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO) rgd 2017-10-24T00:00:00Z MONDO:0022697 athetoid dyskinetic cerebral palsy dyskinetic cerebral palsies rgd_disease_ontology DOID:0050672 dyskinetic cerebral palsy A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO) http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO) rgd 2017-10-24T00:00:00Z MONDO:0000400 mixed cerebral palsies rgd_disease_ontology DOID:0050673 mixed cerebral palsy A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO) http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO) rgd 2017-10-23T00:00:00Z EFO:0009039 ICD10CM:K76.8 MIM:PS607765 MONDO:0018841 ORDO:485631 CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency rgd_disease_ontology DOID:0050674 congenital bile acid synthesis defect A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO) PMID:12543708 https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO) MIM:612292 GARD:10358 MESH:C567357 ORDO:166108 BIBARS Birk-Barel intellectual disability dysmorphism syndrome Birk-Barel mental retardation dysmorphism syndrome KCNK9-RELATED CONDITION mental retardation with hypotonia and facial dysmorphism rgd_disease_ontology DOID:0050675 Birk-Barel syndrome A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO) https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO) EFO:1001273 GARD:2322 MESH:D058249 MIM:135150 MIM:620459 MIM:PS135150 MONDO:0007607 MONDO:0800444 NCI:C28244 OMIA:001335 ORDO:122 BHD Birt-Hogg-Dubé syndrome Hornstein-Birt-Hogg-Dubé syndrome Hornstein-Knickenberg syndrome fibrofolliculomas with trichodiscomas and acrochordons renal cystadenocarcinoma and nodular dermatofibrosis BHD1 BHD2 Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome 2 rgd_disease_ontology DOID:0050676 Birt-Hogg-Dube syndrome A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO) https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO) MIM:262000 BCS1L-related disorder GARD:22 MESH:C537633 ORDO:123 BJS PTD deafness and pili torti, Bjornstad type deafness-pili torti-hypogonadism syndrome pili torti and nerve deafness pili torti-deafness syndrome pili torti-sensorineural hearing loss BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY rgd_disease_ontology DOID:0050677 Bjornstad syndrome A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO) https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO) MIM:186580 GARD:304 MESH:C538157 NCI:C116794 ORDO:90340 ACUG BLAUS Familial Juvenile Systemic Granulomatosis Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial Jabs syndrome arthrocutaneouveal granulomatosis familial granulomatosis, Blau type pediatric granulomatous arthritis synovitis granulomatous with uveitis and cranial neuropathies rgd_disease_ontology DOID:0050678 Blau syndrome A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO) http://en.wikipedia.org/wiki/Blau_syndrome http://www.omim.org/entry/186580?search=186580&highlight=186580 An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO) GARD:917 MESH:C536238 MIM:303700 MONDO:0010563 ORDO:16 BCM CONE MONOCHROMATISM blue cone monochromatism color blindness blue mono cone monochromatic type CBBM CONE DYSTROPHY 5, X-LINKED COD5 rgd_disease_ontology cone dystrophy 5, X-linked DOID:0050679 blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO) MIM:303700 ORDO:16 An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO) MIM:112310 FLNB-related spectrum disorder GARD:933 MESH:C536573 ORDO:1263 Boomerang-like skeletal dysplasia Dwarfism with short, bowed, rigid limbs and characteristic facies Piepkorn dysplasia rgd_disease_ontology DOID:0050680 Boomerang dysplasia An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO) https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO) GARD:936 MESH:C536575 MIM:301900 MONDO:0010537 NCI:C157122 ORDO:127 BFLS BORJ Borjeson syndrome MRXSBFL PHF6-RELATED CONDITION intellectual deficiency-epilepsy-endocrine disorders syndrome mental deficiency, epilepsy and endocrine disorders mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type rgd_disease_ontology DOID:0050681 Borjeson-Forssman-Lehmann syndrome An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO) http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO) MIM:601536 MESH:C535397 ORDO:69739 ABDS Athabaskan brainstem dysgenesis HOXA1-RELATED CONDITION HOXA1-RELATED DISORDER HUMAN HOXA1 SYNDROMES Navajo brainstem syndrome rgd_disease_ontology BSAS Bosley-Salih-Alorainy syndrome DOID:0050682 Athabaskan brainstem dysgenesis syndrome A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO) MIM:601536 PMID:18412118 A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO) MESH:C564392 MIM:607475 MONDO:0011838 ORDO:85128 Vasterbotten dystrophy rgd_disease_ontology DOID:0050683 Bothnia retinal dystrophy A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO) MIM:607475 PMID:11176989 A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO) MIM:211180 GARD:5950 MESH:C537081 ORDO:1270 BWCNS Bowen Hutterite syndrome Bowen-Conradi Hutterite syndrome rgd_disease_ontology DOID:0050684 Bowen-Conradi syndrome A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO) MIM:211180 PMID:19463982 A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO) EFO:0008524 EFO:1000519 ICDO:8041/3 MESH:D018288 MIM:182280 MONDO:0000402 NCI:C4099 SCCL SCLC SCLC1 oat cell carcinoma oat cell carcinomas small cell carcinomas Salivary Gland Small Cell Carcinoma small cell carcinoma, intermediate cell rgd_disease_ontology DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO) http://en.wikipedia.org/wiki/Small_cell_carcinoma A cancer that is classified based on the organ it starts in. (DO) rgd_disease_ontology DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in. (DO) https://www.cancer.gov/types/by-body-location A cancer that is classified by the type of cell from which it is derived. (DO) cancer by histologic type rgd_disease_ontology DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived. (DO) http://en.wikipedia.org/wiki/Cancer A large intestine cancer that is located_in the terminal part of the large intestine. (DO) rgd 2017-09-01T00:00:00Z rgd_disease_ontology DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine. (DO) http://en.wikipedia.org/wiki/Anal_canal A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO) MIM:610713 MESH:C565193 ORDO:93409 BDSD BDSDO brachydactyly-syndactyly-oligodactyly syndrome rgd_disease_ontology DOID:0050689 brachydactyly-syndactyly syndrome A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO) MIM:610713 PMID:17236141 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO) DOID:9008880 GARD:10903 MESH:C537098 ORDO:1293 brachyrachia rgd_disease_ontology DOID:0050690 brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO) PMID:10968486 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO) rgd 2017-10-19T00:00:00Z GARD:3212 MIM:113620 ORDO:1297 BOF syndrome BOFS TFAP2A-RELATED CONDITION branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging branchio oculo facial syndrome hemangiomatous branchial clefts lip pseudocleft syndrome lip pseudocleft hemangiomatous branchial cyst syndrome rgd_disease_ontology DOID:0050691 branchiooculofacial syndrome A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO) ORDO:1297 http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome http://www.ncbi.nlm.nih.gov/books/NBK55063/ http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO) GARD:9158 MESH:C536607 MIM:601003 MONDO:0010977 ORDO:53347 Brody disease autosomal recessive Brody myopathy rgd_disease_ontology DOID:0050692 Brody myopathy A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO) https://ghr.nlm.nih.gov/condition/brody-myopathy A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO) GARD:10179 MESH:C536611 MIM:132700 MIM:605041 MONDO:0007565 NCI:C43352 ORDO:211 ORDO:79493 Ancell-Spiegler cylindromas BRSS BSS CYLD cutaneous syndrome FAMILIAL MULTIPLE TRICHOEPITHELIOMATA SBS Turban tumor syndrome Turban tumors dermal eccrine cylindroma familial cylindromatosis familial trichoepithelioma multiple familial trichoepithelioma rgd_disease_ontology DOID:0050693 Brooke-Spiegler syndrome A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO) https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO) MESH:C537111 MIM:PS211530 ORDO:97229 pontobulbar palsy and neurosensory deafness pontobulbar palsy with deafness progressive bulbar palsy with sensorineural deafness rgd_disease_ontology DOID:0050694 Brown-Vialetto-Van Laere syndrome A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO) PMID:21110228 A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO) rgd_disease_ontology DOID:0050695 malignant pleural solitary fibrous tumor A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO) PMID:17075563 A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO) MESH:D063647 MONDO:0000408 ORDO:1915 FAE (fetal alcohol effects) FASD fetal alcohol syndrome growth retardation, facial abnormalities, and central nervous system dysfunction rgd_disease_ontology DOID:0050696 fetal alcohol spectrum disorder A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO) http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder http://www.cdc.gov/ncbddd/fasd/facts.html A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO) EFO:0009948 MESH:D002821 amnionitides amnionitis chorioamnionitides rgd_disease_ontology DOID:0050697 chorioamnionitis A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO) http://en.wikipedia.org/wiki/Chorioamnionitis http://www.merriam-webster.com/medlineplus/Chorioamnionitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO) rgd 2017-10-18T00:00:00Z funisitides rgd_disease_ontology DOID:0050698 funisitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO) http://en.wikipedia.org/wiki/Funisitis A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO) GARD:13105 MESH:D057973 MIM:PS300009 MONDO:0015612 NCI:C123260 ORDO:1652 Dent's disease X-linked hypercalciuric nephrocalcinosis rgd_disease_ontology DOID:0050699 Dent disease A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO) ORDO:1652 http://en.wikipedia.org/wiki/Dent%27s_disease http://ghr.nlm.nih.gov/condition/dent-disease https://www.dentdisease.org/ A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO) EFO:0000318 EFO:0000767 EFO:0002629 EFO:0002945 ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 ORDO:167848 Myocardial Disease Myocardial Diseases Myocardiopathies Myocardiopathy Primary Cardiomyopathies Primary Cardiomyopathy Primary Myocardial Disease Primary Myocardial Diseases Secondary Cardiomyopathies Secondary Cardiomyopathy cardiomyopathies cardiomyopathy with or without skeletal myopathy secondary myocardial disease secondary myocardial diseases FETAL CARDIOMYOPATHY Familial Cardiomyopathy HYPOKINETIC NON-DILATED CARDIOMYOPATHY NON-DILATED LEFT VENTRICULAR CARDIOMYOPATHY PRKAG2 Cardiac Syndrome TNNI3-RELATED DISORDER TXNRD2-ASSOCIATED CARDIOMYOPATHY idiopathic cardiomyopathy viral cardiomyopathy rgd_disease_ontology PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY DOID:0050700 cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO) http://en.wikipedia.org/wiki/Cardiomyopathy http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ An epilepsy that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO) rgd 2017-10-03T00:00:00Z electro-clinical syndrome TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY rgd_disease_ontology DOID:0050701 electroclinical syndrome An epilepsy that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO) PMID:20196795 http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050702 neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO) PMID:20196795 PMID:22182677 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050703 infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO) PMID:20196795 An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050704 childhood electroclinical syndrome An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO) PMID:20196795 An electroclinical syndrome with onset in adolescence and adulthood. (DO) rgd 2017-10-03T00:00:00Z MONDO:0000415 rgd_disease_ontology DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. (DO) PMID:20196795 An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO) rgd 2017-10-18T00:00:00Z MONDO:0100619 rgd_disease_ontology DOID:0050706 variable age at onset electroclinical syndrome An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/ A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO) rgd 2017-10-03T00:00:00Z rgd_disease_ontology DOID:0050708 early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO) PMID:24099057 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO) rgd 2017-10-30T00:00:00Z DOID:2481 EFO:1000643 GARD:9255 NCI:C122814 ORDO:1934 DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS EARLY-INFANTILE DEE early infantile epileptic encephalopathy with burst-suppression rgd_disease_ontology DOID:0050709 early infantile epileptic encephalopathy A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO) http://en.wikipedia.org/wiki/Ohtahara_syndrome http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO) rgd 2017-11-08T00:00:00Z GARD:10954 MIM:PS210200 NCI:C98674 ORDO:6 3-MCC deficiency 3-Methylcrotonylglycinuria 3-methylcrotonyl-Coenzyme A carboxylase deficiency 3MCC deficiency BMCC deficiency Deficiency of Methylcrotonoyl-Coa Carboxylase MCC deficiency methylcrotonyl-Coa carboxylase deficiency rgd_disease_ontology DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO) MIM:210200 http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO) GARD:9499 MESH:C536004 MIM:604290 MONDO:0011426 NCI:C189281 ORDO:48818 CP-RELATED CONDITION DEFICIENCY OF FERROXIDASE NBIA10 familial apoceruloplasmin deficiency hereditary hypoceruloplasminemia neurodegeneration with brain iron accumulation-10 CERULOPLASMIN DEFICIENCY hypoceruloplasminemia systemic hemosiderosis due to aceruloplasminemia rgd_disease_ontology DOID:0050711 aceruloplasminemia An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO) MIM:604290 http://en.wikipedia.org/wiki/Aceruloplasminemia An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO) GATM-related condition MESH:C567192 MIM:612718 MONDO:0012996 NCI:C198575 ORDO:35704 CCDS3 GATM deficiency L-Arginine:Glycine Aminidotransferase Deficiency arginine:glycine amidinotransferase deficiency cerebral creatine deficiency syndrome 3 creatine deficiency syndrome due to AGAT deficiency rgd_disease_ontology DOID:0050712 AGAT deficiency An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO) http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO) rgd 2017-11-08T00:00:00Z ORDO:1561 fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency fatal infantile cytochrome C oxidase deficiency fatal infantile encephalocardiomyopathy rgd_disease_ontology DOID:0050713 COX deficiency, infantile mitochondrial myopathy A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO) https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO) MIM:277400 MONDO:0010184 NCI:C142174 ORDO:79282 COBALAMIN C DISEASE MAHCC MMACHC-related condition PRDX1-related condition cobalamin C deficiency cobalamin-C methylmalonic acidemia and homocystinuria methylmalonic acidemia and homocystinuria, cblC type methylmalonic aciduria and homocystinuria, vitamin B12-responsive methylmalonic aciduria with homocystinuria, cblC type vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase methylmalonic acidemia and homocystinemia methylmalonic aciduria with homocystinuria, cblC type, digenic rgd_disease_ontology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO) MIM:277400 A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO) MESH:C564743 MIM:277410 MONDO:0010185 NCI:C183524 ORDO:79283 MAHCD METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD METHYLMALONIC ACIDEMIA, cblH TYPE, formerly METHYLMALONIC ACIDURIA, cblH TYPE, formerly cobalamin D deficiency methylmalonic acidemia and homocystinuria, CblD type methylmalonic aciduria with homocystinuria, cblD type HOMOCYSTINURIA, cblD TYPE, VARIANT 1 methylmalonic aciduria, cblD type, variant 2 rgd_disease_ontology DOID:0050716 methylmalonic aciduria and homocystinuria type cblD A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO) MIM:277410 PMID:18385497 A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO) MESH:C564747 MIM:277380 MONDO:0010183 NCI:C183525 ORDO:79284 MAHCF Methylmalonic Acidemia and Homocystinuria, CblF Type Methylmalonic Aciduria due to Vitamin B12-Release Defect cblF cobalamin F deficiency cobalamin F disease defect in lysosomal release of cobalamin vitamin B12 lysosomal release defect vitamin B12 storage disease rgd_disease_ontology DOID:0050717 methylmalonic aciduria and homocystinuria type cblF A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO) PMID:21910240 An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO) rgd 2017-10-26T00:00:00Z EFO:0005596 RDO:9003867 rgd_disease_ontology DOID:0050718 vitamin metabolic disorder An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO) http://en.wikipedia.org/wiki/Inborn_error_of_metabolism A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO) MIM:613068 MESH:C567791 ORDO:217382 CEREBRAL FOLATE TRANSPORT DEFICIENCY FOLR1-RELATED CONDITION NCFTD cerebral folate deficiency neurodegeneration due to cerebral folate transport deficiency rgd_disease_ontology DOID:0050719 cerebral folate receptor alpha deficiency A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO) PMID:19732866 http://en.wikipedia.org/wiki/B_vitamins An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO) GARD:2830 MESH:C538380 MIM:238970 MONDO:0009393 NCI:C129029 ORDO:415 HHH HHH syndrome HHHS hyperornithinemia-hyperammonemia-homocitrullinemia syndrome hyperornithinemia-hyperammonemia-homocitrullinuria hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome hyperornithinemia-hyperammonemia-homocitrullinuria syndrome triple H syndrome rgd_disease_ontology DOID:0050720 ornithine translocase deficiency An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO) http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO) rgd 2017-10-27T00:00:00Z MIM:PS256520 MONDO:0018162 ORDO:35705 neurometabolic disorder due to serine deficiency rgd_disease_ontology DOID:0050721 serine deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO) PMID:15021249 A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO) PHGDH-RELATED DISORDER MESH:C566618 MIM:601815 MONDO:0011152 ORDO:79351 PHGDHD phosphoglycerate dehydrogenase deficiency rgd_disease_ontology DOID:0050722 PHGDH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO) http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 http://www.omim.org/entry/601815 A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO) MIM:610992 PSAT1-RELATED CONDITION PSAT1-RELATED DISORDER MESH:C567032 ORDO:284417 PSATD Phosphoserine Aminotransferase Deficiency rgd_disease_ontology DOID:0050723 PSAT deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO) ORDO:284417 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ http://www.omim.org/entry/610992?search=610992&highlight=610992 A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO) MIM:614023 ORDO:79350 DEFICIENCY OF PHOSPHOSERINE PHOSPHATASE PSPH-RELATED CONDITION PSPHD phosphoserine phosphatase deficiency rgd_disease_ontology DOID:0050724 PSPH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO) ORDO:79350 http://en.wikipedia.org/wiki/PSPH http://www.omim.org/entry/614023 A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO) rgd 2017-10-27T00:00:00Z MIM:276600 NCI:C129032 ORDO:28378 Richner-Hanhart syndrome Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type Richner-Hanhart syndromes TYRSN2 hereditary tyrosinemia type II oculocutaneous tyrosinemia type 2 tyrosinemia type 2 tyrosinemias type II tyrosinemias rgd_disease_ontology DOID:0050725 tyrosinemia type II A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO) http://en.wikipedia.org/wiki/Tyrosinemia_type_II http://www.omim.org/entry/276600?search=276600&highlight=276600 A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO) rgd 2017-10-27T00:00:00Z MIM:276700 NCI:C98641 ORDO:882 FAH-RELATED DISORDER TYRSN1 hepatorenal tyrosinemia hepatorenal tyrosinemias hereditary tyrosinemia, type I type I hypertyrosinemia tyrosinemia type 1 rgd_disease_ontology DOID:0050726 tyrosinemia type I A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO) http://en.wikipedia.org/wiki/Type_I_tyrosinemia A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO) rgd 2017-10-27T00:00:00Z MIM:276710 ORDO:69723 4 hydroxyphenol pyruvic acid oxidase deficiency disease 4 hydroxyphenylpyruvate dioxygenase deficiency disease 4-hydroxyphenylpyruvate dioxygenase deficiencies 4-hydroxyphenylpyruvate dioxygenase deficiency 4-hydroxyphenylpyruvic acid oxidase deficiency TYRSN3 hereditary tyrosinemia, type III rgd_disease_ontology DOID:0050727 tyrosinemia type III A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO) http://en.wikipedia.org/wiki/Type_III_tyrosinemia http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0050728 glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO) http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO) MIM:275630 GARD:3979 MESH:C536560 ORDO:98907 ABHD5-RELATED CONDITION CDS Chanarin-Dorfman disease DCS NLSDI ichthyosiform erythroderma with leukocyte vacuolation ichthyotic neutral lipid storage disease neutral lipid storage disease neutral lipid storage disease with ichthyosis neutral lipid storage myopathy triglyceride storage disease with ichthyosis triglyceride storage disease with impaired long-chain fatty acid oxidation rgd_disease_ontology DOID:0050729 Chanarin-Dorfman syndrome A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO) http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO) GARD:10423 MESH:C564403 MIM:PS607426 ORDO:35656 CoQ Deficiency coenzyme Q deficiency primary CoQ10 deficiency primary coenzyme Q10 deficiency ubiquinone deficiency COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE rgd_disease_ontology DOID:0050730 coenzyme Q10 deficiency disease A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO) http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO) MIM:612542 EFO:0000734 MESH:D014806 cobalamin deficiency hypocobalaminemia vitamin B12 deficiencies acquired cobalamin-deficient neuropathy vitamin B12 deficiency anemia rgd_disease_ontology DOID:0050731 vitamin B12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO) http://en.wikipedia.org/wiki/B12_deficiency A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO) rgd 2017-10-20T00:00:00Z EFO:0005568 rgd_disease_ontology DOID:0050732 methylmalonic aciduria and homocystinuria type cblE A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO) MIM:236270 https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO) DOID:9000093 EFO:0005597 MESH:C537426 MESH:C565394 MIM:250940 MONDO:0009609 MONDO:0021915 ORDO:2170 Arakawa syndrome 2 Arakawa's syndrome 2 Arakawa's syndrome II HMAG HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type N5-methylhomocysteine transferase deficiency homocystinuria-megaloblastic anemia, cblG complementation type methionine synthase deficiency methylcobalamin deficiency type CblG tetrahydrofolate-methyltransferase deficiency syndrome rgd_disease_ontology DOID:0050733 methylmalonic aciduria and homocystinuria type cblG A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO) MIM:250940 https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO) MESH:C563242 MIM:261000 MONDO:0009852 ORDO:332 IFD congenital pernicious anemia, due to defect of intrinsic factor hereditary intrinsic factor deficiency intrinsic factor deficiency rgd_disease_ontology DOID:0050734 congenital intrinsic factor deficiency A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO) MIM:261000 ORDO:332 PMID:14695536 A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO) MESH:D040181 Genetic Diseases, X Chromosome Linked X-linked disease X-linked genetic disease X-linked inheritance rgd_disease_ontology DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO) http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO) rgd 2017-09-13T00:00:00Z MONDO:0000426 rgd_disease_ontology DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO) http://ghr.nlm.nih.gov/glossary=autosomaldominant http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO) rgd 2017-09-13T00:00:00Z EFO:1000017 rgd_disease_ontology DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO) http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO) MESH:D050174 Y chromosome linked genetic diseases Y-linked disease Y-linked genetic disease rgd_disease_ontology DOID:0050738 Y-linked monogenic disease A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO) http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes. (DO) rgd 2017-09-13T00:00:00Z rgd_disease_ontology DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes. (DO) http://ghr.nlm.nih.gov/glossary=autosomaldominant http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO) MIM:600096 GARD:371 MESH:C536259 ORDO:3010 Puerto Rican infant hypotonia syndrome Puertorican infant hypotonia syndrome dysharmonic skeletal maturation muscular fibre disproportion rgd_disease_ontology DOID:0050740 Qazi Markouizos syndrome A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO) MIM:600096 ORDO:3010 A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO) rgd 2017-10-17T00:00:00Z GABRA2-RELATED CONDITION MIM:103780 MONDO:0007079 alcohol addiction alcoholism rgd_disease_ontology ALCOHOLISM, SUSCEPTIBILITY TO DOID:0050741 alcohol dependence A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO) https://en.wikipedia.org/wiki/Alcohol_dependence A substance dependence that is characterized by a physical dependence on nicotine. (DO) rgd 2017-11-08T00:00:00Z DOID:9001310 CHRNA4-RELATED CONDITION SLC6A3-RELATED CONDITION EFO:0003768 ICD10CM:F17 MESH:D014029 MIM:188890 MONDO:0008575 NCI:C54203 Nicotine Use Disorder Nicotine Use Disorders Tobacco Dependence Tobacco Use Disorders tobacco use disorder rgd_disease_ontology NICOTINE ADDICTION, PROTECTION AGAINST NICOTINE ADDICTION, SUSCEPTIBILITY TO NICOTINE DEPENDENCE, SUSCEPTIBILITY TO cigarette habituation, susceptibility to smoking habit, susceptibility to tobacco addiction, susceptibility to DOID:0050742 nicotine dependence A substance dependence that is characterized by a physical dependence on nicotine. (DO) https://en.wikipedia.org/wiki/Nicotine_dependence A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO) rgd 2017-10-11T00:00:00Z NK-T cell lymphoma mature T-cell and natural killer cell lymphoma rgd_disease_ontology DOID:0050743 mature T-cell and NK-cell lymphoma A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO) PMID:21919697 http://www.cancer.gov/dictionary?CdrID=393800 http://www.cancer.gov/dictionary?CdrID=44062 A non-Hodgkin lymphoma involving aberrant T-cells. (DO) EFO:0003032 EFO:1000156 ICDO:9714/3 MESH:D017728 MONDO:0020325 NCI:C3720 ORDO:98841 CD30 Positive Anaplastic Large Cell Lymphoma CD30+ Anaplastic Large Cell Lymphoma Ki 1 Lymphoma Ki-1 Lymphomas Lymphoma, Large-Cell, Ki-1 anaplastic large-cell lymphomas systemic anaplastic large cell lymphoma Central Nervous System Anaplastic Large Cell Lymphoma rgd_disease_ontology DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. (DO) http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO) EFO:0000403 EFO:1000144 EFO:1000191 EFO:1000495 EFO:1000534 EFO:1000547 EFO:1000587 GARD:3178 ICD11:2A81.Z ICDO:9680/3 MESH:D016403 NCI:C45605 NCI:C80280 NCI:C8851 ORDO:544 DLBCL diffuse histiocytic lymphoma diffuse histiocytic lymphomas diffuse large cell lymphoma diffuse large lymphoid lymphoma diffuse large-cell lymphomas histiocytic lymphoma histiocytic lymphomas Breast Diffuse Large B-Cell Lymphoma Colorectal Diffuse Large B-Cell Lymphoma LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC MALIGNANT LYMPHOMA, LARGE B-CELL, DIFFUSE PCLBCL Primary Pulmonary Diffuse Large B-Cell Lymphoma Small Intestinal Diffuse Large B-Cell Lymphoma Thyroid Gland Diffuse Large B-Cell Lymphoma primary cutaneous large B-cell lymphoma rgd_disease_ontology DOID:0050745 diffuse large B-cell lymphoma A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO) PMID:28487884 http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO) EFO:1000272 EFO:1000549 EFO:1001469 GARD:6969 ICDO:9673/3 MESH:D020522 NCI:C187985 NCI:C4337 ORDO:52416 Centrocytic Small-Cell Lymphoma Diffuse Lymphocytic Lymphoma, Poorly Differentiated Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated Lymphoma, Lymphocytic, Intermediate Mantle Cell Lymphoma, Somatic Mantle Zone Lymphoma Mantle-Cell Lymphomas centrocytic small-cell lymphomas mantle-zone lymphomas Gastric Mantle Cell Lymphoma Splenic Mantle Cell Lymphoma rgd_disease_ontology DOID:0050746 mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO) http://en.wikipedia.org/wiki/Mantle_cell_lymphoma true A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO) EFO:1000630 MESH:D018442 ORDO:300912 marginal zone B-cell lymphoma rgd_disease_ontology DOID:0050748 marginal zone lymphoma A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO) http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma http://www.cancer.gov/dictionary?CdrID=562554 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO) EFO:0000211 GARD:7368 MESH:D016411 ORDO:86885 peripheral T-cell lymphomas unspecified peripheral T-cell lymphoma rgd_disease_ontology DOID:0050749 peripheral T-cell lymphoma A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO) http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO) rgd 2016-08-22T00:00:00Z EFO:1000550 NCI:C4663 splenic lymphoma with villous lymphocytes splenic marginal zone B-cell lymphoma rgd_disease_ontology DOID:0050750 splenic marginal zone lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO) http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO) ICDO:9831/3 MESH:D054066 MONDO:0019469 NCI:C4664 NCI:C64066 ORDO:512034 ORDO:86872 Aggressive Natural Killer Cell Leukemia LGL Leukemia LGL leukemias Large Granular Lymphocyte Leukemia Large Granular Lymphocytosis Large granular lymphocytic leukaemia Leukemia, Large Granular Lymphocytic Lymphoproliferative Disease of Large Granular Lymphocytes NK Cell Large Granular Lymphocytic Leukemia NK-LGL leukemia Natural Killer Cell Large Granular Lymphocytic Leukemia T-LGL leukemia T-cell large granular lymphocyte leukaemia T-cell large granular lymphocytic leukemia large granular lymphocytoses lymphoproliferative disease of granular lymphocytes rgd_disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO) http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO) VAPB-RELATED DISORDER GARD:10499 MESH:C563895 MIM:608627 MONDO:0012077 NCI:C168751 ALS8 amyotrophic lateral sclerosis 8 rgd_disease_ontology DOID:0050752 amyotrophic lateral sclerosis type 8 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO) MIM:608627 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO) OMIA:000078 OMIA:001692 OMIA:001913 OMIA:001954 OMIA:002110 MESH:D002524 NCI:C140268 Adiadochokinesis Cerebellar Dysmetria Cerebellar Dysmetrias Cerebellar Hemiataxia Cerebellar Hemiataxias Cerebellar Incoordination Cerebellar Incoordinations Dysmetria Dysmetrias HEREDITARY CEREBELLAR ATAXIA adiadochokineses cerebellar ataxias hypermetria hypermetrias Ataxia, cerebellar, juvenile to adolescent, RAB24-related Ataxia, cerebellar, neonatal Ataxia, cerebellar, neonatal, GRM1-related Ataxia, cerebellar, progressive early-onset Ataxia, cerebellar, progressive early-onset, SEL1L-related cerebellar ataxia, juvenile to adolescent neurodegenerative vacuolar storage disease rgd_disease_ontology DOID:0050753 cerebellar ataxia A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO) http://en.wikipedia.org/wiki/Cerebellar_ataxia An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO) APTX-related condition GARD:9283 MESH:C538013 MIM:208920 MONDO:0008842 ORDO:1168 AOA AOA1 Ataxia-telangiectasia-like syndrome EAOH EOCA-HA adult-onset ataxia with oculomotor apraxia ataxia with oculomotor apraxia type 1 ataxia-oculomotor apraxia 1 ataxia-oculomotor apraxia syndrome early-onset ataxia with ocular motor apraxia and hypoalbuminemia ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA rgd_disease_ontology DOID:0050754 early-onset ataxia with oculomotor apraxia and hypoalbuminemia An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO) https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO) rgd 2017-10-31T00:00:00Z SETX-related condition SETX-related disorder SETX-related disorders GARD:12860 MESH:C537308 MIM:606002 MONDO:0018996 NCI:C165500 ORDO:64753 AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia ataxia with oculomotor apraxia type 2 ataxia-ocular apraxia 2 ataxia-oculomotor apraxia 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 recessive spinocerebellar ataxia, Non-Friedreich type 1 spinocerebellar ataxia with axonal neuropathy type 2 rgd_disease_ontology DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO) PMID:19696032 PMID:23786967 https://www.ncbi.nlm.nih.gov/books/NBK1154/ A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO) rgd 2017-11-03T00:00:00Z DOID:0050867 MIM:304700 MESH:C535808 MESH:C537568 ORDO:3213 ORDO:52368 DDP DDS Jensen syndrome MTS Mohr-Tranebjaerg syndrome Mohr-Tranebjærg Syndrome deafness (DFN-1) dystonia, mental deficiency and blindness deafness dystonia syndrome deafness-dystonia-optic atrophy syndrome nerve deafness, optic nerve atrophy, and dementia opticoacoustic nerve atrophy with dementia opticoacustic nerve atrophy with dementia progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency syndrome of opticoacoustic nerve atrophy with dementia rgd_disease_ontology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO) MIM:304700 http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome http://www.ncbi.nlm.nih.gov/books/NBK1216/ An acquired metabolic disease that characterized by excessive production of acid. (DO) metabolic acidoses rgd_disease_ontology DOID:0050758 metabolic acidosis An acquired metabolic disease that characterized by excessive production of acid. (DO) http://en.wikipedia.org/wiki/Metabolic_acidosis https://medlineplus.gov/ency/article/000335.htm A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO) rgd 2017-10-27T00:00:00Z GARD:9728 ICD10CM:G71.1 MIM:602668 MONDO:0011266 NCI:C122789 NCI:C122790 ORDO:606 Ricker disease Ricker syndrome proximal myotonic dystrophy proximal myotonic myopathy rgd_disease_ontology DOID:0050759 myotonic dystrophy type 2 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO) http://ghr.nlm.nih.gov/condition/myotonic-dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1466/ A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO) GARD:3892 MESH:C564093 MIM:310440 MONDO:0010684 ORDO:25980 MEAX XMEA rgd_disease_ontology DOID:0050760 X-linked myopathy with excessive autophagy A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO) https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ true An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO) ADSL-related condition GARD:550 MESH:C538235 MIM:103050 MONDO:0007068 ORDO:46 ADSL deficiency ADSLD adenylosuccinase deficiency adenylosuccinate lyase deficiency succinylpurinemic autism adenylosuccinate lyase deficiency type 1 adenylosuccinate lyase deficiency type 2 adenylosuccinate lyase deficiency type 3 adenylosuccinate lyase deficiency type 4 rgd_disease_ontology DOID:0050762 adenylosuccinase lyase deficiency An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO) https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO) MESH:C535382 MIM:PS208085 ORDO:2697 ARCS ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome arthrogryposis multiplex congenita, renal dysfunction, and cholestasis arthrogryposis renal dysfunction cholestasis syndrome arthrogryposis with renal dysfunction and cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis arthrogryposis-renal dysfunction-cholestasis rgd_disease_ontology DOID:0050763 ARC syndrome A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO) PMID:16896922 PMID:22753090 PMID:24415890 http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO) MIM:300261 MESH:C564551 ORDO:85276 Armfield X-Linked Mental Retardation Syndrome FAM50A-RELATED CONDITION MRXSA Mental Retardation, X-Linked, Armfield Type X-linked intellectual disability, Armfield type X-linked mental retardation syndrome, Armfield type X-linked syndromic intellectual developmental disorder, Armfield type X-linked syndromic mental retardation, Armfield type rgd_disease_ontology DOID:0050764 Armfield syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO) PMID:10398235 A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO) GARD:10902 MESH:D054546 ORDO:263440 acanthocytosis with neurologic disorder rgd_disease_ontology DOID:0050765 neuroacanthocytosis A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO) https://en.wikipedia.org/wiki/Neuroacanthocytosis https://rarediseases.org/rare-diseases/neuroacanthocytosis/ https://www.ncbi.nlm.nih.gov/books/NBK1387/ A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO) rgd 2017-10-23T00:00:00Z GARD:3956 MIM:200150 NCI:C84926 ORDO:2388 CHAC Levine-Critchley syndrome VPS13A-RELATED CONDITION VPS13A-RELATED NEURODEGENERATIVE DISEASE chorea acanthocytosis chorea acanthocytosis syndrome choreo-acanthocytosis choreoacanthocytosis rgd_disease_ontology DOID:0050766 choreaacanthocytosis A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO) PMID:9382101 https://en.wikipedia.org/wiki/Chorea_acanthocytosis https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0050767 midface dysplasia An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO) https://en.wikipedia.org/wiki/Frontonasal_dysplasia A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO) MIM:604273 MONDO:0011421 ATPAF2-related condition MC5DN1 mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type rgd_disease_ontology DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO) MIM:604273 A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO) MIM:310465 GARD:3902 MESH:C536108 ORDO:2608 NSX rgd_disease_ontology DOID:0050769 N syndrome A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO) https://rarediseases.info.nih.gov/diseases/3902/n-syndrome A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO) cystic liver disease EFO:1001505 GARD:9457 MESH:C536330 MIM:PS174050 ORDO:2924 congenital cystic disease of liver congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE rgd_disease_ontology DOID:0050770 polycystic liver disease A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO) https://rarediseases.org/rare-diseases/polycystic-liver-disease/ An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO) EFO:1000106 GARD:7385 ICDO:8700/0 MESH:D010673 MIM:171300 MONDO:0008233 phaeochromocytoma pheochromocytomas benign adrenal gland pheochromocytoma rgd_disease_ontology pheochromocytoma, susceptibility to DOID:0050771 pheochromocytoma An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO) MIM:171300 https://en.wikipedia.org/wiki/Pheochromocytoma https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO) MESH:C566993 MIM:108600 MONDO:0007164 ORDO:251282 SPAX1 spastic ataxia 1, autosomal dominant rgd_disease_ontology DOID:0050772 spastic ataxia 1 A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO) https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO) DOID:9000364 EFO:0000489 EFO:0020005 EFO:1000128 EFO:1000453 EFO:1000621 ICDO:8680/3 MESH:D010235 MESH:D010236 MIM:PS168000 MONDO:0000448 NCI:C3308 CBT1 Extra-Adrenal Paraganglioma Extra-Adrenal Paragangliomas Non-Chromaffin Paraganglioma Nonchromaffin Paraganglioma Nonchromaffin Paragangliomas PGL chemodectoma chemodectomas extra-adrenal sympathetic paraganglioma gangliocytic paraganglioma gangliocytic paragangliomas glomus body tumor hereditary paragangliomas and pheochromocytomas paragangliomas paragangliomata pheochromocytoma-paraganglioma Bladder Paraganglioma PARASYMPATHETIC PARAGANGLIOMA paraganglioma, familial malignant vagus nerve paraganglioma rgd_disease_ontology DOID:0050773 paraganglioma A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO) https://en.wikipedia.org/wiki/Paraganglioma https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO) GARD:4637 MESH:C535288 MIM:266280 MONDO:0009955 ORDO:3021 radial and patellar aplasia radial and patellar hypoplasia rgd_disease_ontology DOID:0050774 rapadilino syndrome A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO) https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO) RDO:0002274 GARD:169 MESH:C536637 MIM:269250 ORDO:3144 Chondrodysplasia, lethal neonatal, with snail-like pelvis SHNKND SLC35D1-RELATED DISORDER rgd_disease_ontology DOID:0050775 schneckenbecken dysplasia An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO) https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO) MESH:C564490 MIM:PS309530 MONDO:0019181 ORDO:777 X-linked non-specific mental retardation rgd_disease_ontology DOID:0050776 non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO) PMID:7011032 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO) rgd 2016-11-09T00:00:00Z GARD:6802 MIM:PS213300 NCI:C74996 ORDO:475 JBTS Joubert syndrome and related disorders rgd_disease_ontology DOID:0050777 Joubert syndrome A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO) MIM:213300 http://en.wikipedia.org/wiki/Joubert_syndrome A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO) rgd 2017-11-08T00:00:00Z GARD:3436 ICD9CM:753.1 MIM:PS249000 NCI:C98978 ORDO:564 MKS Meckel Gruber syndrome rgd_disease_ontology DOID:0050778 Meckel syndrome A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO) http://en.wikipedia.org/wiki/Meckel_syndrome http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO) EFO:1000033 GARD:6683 MESH:C536079 MIM:PS236680 MONDO:0006037 ORDO:2189 Salonen-Herva-Norio syndrome rgd_disease_ontology DOID:0050779 hydrolethalus syndrome A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO) PMID:15843405 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 true A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO) NAA10-RELATED CONDITION MIM:300855 NCI:C188215 ORDO:276432 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency NATD OGDNS X-linked malformation and infantile lethality syndrome rgd_disease_ontology DOID:0050781 Ogden syndrome A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO) PMID:21700266 https://en.wikipedia.org/wiki/Ogden_syndrome A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO) EFO:0007549 GARD:7918 ICD10CM:E16.4 MESH:D015043 NCI:C3453 ORDO:913 rgd_disease_ontology DOID:0050782 Zollinger-Ellison syndrome A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO) PMID:28949124 http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO) rgd 2017-10-20T00:00:00Z EFO:0003840 EFO:0008522 ICD10CM:G35.C SPMS Secondary-progressive MS rgd_disease_ontology chronic progressive multiple sclerosis DOID:0050783 secondary progressive multiple sclerosis A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO) http://www.mayoclinic.org/multiple-sclerosis/types.html http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO) EFO:0008520 ICD10CM:G35.B MESH:D020528 MONDO:0000451 PPMS primary-progressive MS progressive remittent multiple sclerosis rgd_disease_ontology chronic progressive multiple sclerosis DOID:0050784 primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO) http://www.mayoclinic.org/multiple-sclerosis/types.html http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO) rgd 2017-10-20T00:00:00Z PRMS progressive-relapsing MS rgd_disease_ontology DOID:0050785 progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO) PMID:35400704 true A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO) BMPR1A-related disorder EFO:1000310 GARD:3065 MESH:C537702 MIM:174900 MONDO:0017380 ORDO:2929 ORDO:329971 BMPR1A-related juvenile polyposis GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI JIP JPS JUVENILE POLYPOSIS Juvenile Polyposis, Infantile PJI SMAD4-related juvenile polyposis familial polyposis of entire gastrointestinal tract juvenile intestinal polyposis juvenile polyposis of infancy juvenile polyposis of stomach JUVENILE POLYPOSIS COLI rgd_disease_ontology Juvenile Polyp DOID:0050787 juvenile polyposis syndrome A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO) http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome http://www.ncbi.nlm.nih.gov/books/NBK1469/ A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO) GARD:8182 MESH:C536223 MIM:PS185800 MONDO:0008511 ORDO:3250 Cushing symphalangism Cushing's symphalangism Strasburger-Hawkins-Eldridge syndrome Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome Vessel's syndrome hereditary absence of proximal interphalangeal joints hereditary absence of the proximal interphalangeal joints SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER rgd_disease_ontology DOID:0050788 proximal symphalangism A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO) https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1 A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO) GARD:9225 MESH:C536943 MIM:186570 MONDO:0008521 ORDO:1412 NOG-related symphalangism spectrum disorder TCC rgd_disease_ontology synostosis of talus and calcaneus with short stature DOID:0050789 tarsal-carpal coalition syndrome A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO) PMID:22326510 http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO) MIM:228900 MESH:C537931 ORDO:2639 AMD2B Du Pan syndrome acromesomelic dysplasia 2B rgd_disease_ontology DOID:0050790 fibular hypoplasia and complex brachydactyly An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO) PMID:16222676 https://en.wikipedia.org/wiki/Acromesomelic_dysplasia A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO) MIM:261550 OMIA:000791 GARD:8435 MESH:C536665 MONDO:0009857 NCI:C120188 ORDO:2856 AMHR2-RELATED CONDITION FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE PMDS Persistent M?llerian Duct Syndrome Persistent mullerian duct syndrome, types 1 and 2 hernia uteri inguinale persistent Muellerian duct syndrome persistent Mullerian duct syndrome, types I and II persistent oviduct syndrome pseudohermaphroditism, male internal AMH-RELATED CONDITION Persistent Mullerian duct syndrome, type I Persistent Mullerian duct syndrome, type II rgd_disease_ontology DOID:0050791 persistent Mullerian duct syndrome A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO) MIM:261550 ORDO:2856 PMID:20352001 http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO) MIM:600195 TEK-RELATED CONDITION MESH:C563977 ORDO:2451 VMCM VMCM1 cutaneomucosal venous malformation mucocutaneous venous malformations CUTANEOUS VENOUS MALFORMATION SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT rgd_disease_ontology DOID:0050792 multiple cutaneous and mucosal venous malformations A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO) MIM:600195 PMID:20301733 https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO) EFO:0004690 MESH:C580439 MIM:PS609620 MONDO:0000453 NCI:C71060 short QT syndrome 4 short QT syndrome 5 rgd_disease_ontology DOID:0050793 short QT syndrome A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO) MIM:609620 ORDO:51083 http://en.wikipedia.org/wiki/Short_QT_syndrome http://ghr.nlm.nih.gov/condition/short-qt-syndrome A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO) rgd 2017-11-08T00:00:00Z MIM:PS186500 ORDO:3237 rgd_disease_ontology DOID:0050794 multiple synostoses syndrome A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO) rgd 2017-11-08T00:00:00Z GARD:11897 MESH:D000077765 MONDO:0000455 ORDO:1871 retinal cone dystrophy rgd_disease_ontology DOID:0050795 cone dystrophy A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO) http://en.wikipedia.org/wiki/Cone_dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1418/ A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO) GARD:456 MESH:C536010 MIM:200450 MONDO:0008699 ORDO:929 achalasia microcephaly rgd_disease_ontology DOID:0050796 achalasia microcephaly syndrome A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO) https://en.wikipedia.org/wiki/Achalasia_microcephaly A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO) MIM:264470 ACOX1-RELATED CONDITION ACOX1-RELATED DISORDER GARD:4543 MESH:C536662 NCI:C170437 ORDO:2971 ACYL-COA OXIDASE DEFICIENCY peroxisomal acyl-coenzyme A oxidase pseudoneonatal adrenoleukodystrophy straight-chain ACYL-COA oxidase deficiency rgd_disease_ontology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO) ORDO:2971 PMID:11815777 PMID:17458872 PMID:18536048 http://www.omim.org/entry/264470 An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO) rgd 2017-10-31T00:00:00Z MIM:PS300352 rgd_disease_ontology DOID:0050798 cerebral creatine deficiency syndrome An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO) MIM:300352 PMID:17603797 A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO) GAMT-related condition GARD:2578 MESH:C537622 MIM:612736 MONDO:0012999 NCI:C173468 ORDO:382 CCDS2 DEFICIENCY OF GUANIDINOACETATE METHYLTRANSFERASE GAMT deficiency cerebral creatine deficiency syndrome 2 creatine deficiency syndrome due to GAMT deficiency rgd_disease_ontology DOID:0050799 guanidinoacetate methyltransferase deficiency A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO) https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO) SLC6A8 deficiency SLC6A8-related condition MESH:C535598 MIM:300352 MONDO:0010305 NCI:C125665 ORDO:52503 CCDS1 SLC6A8-related creatine transporter deficiency X-linked creatine deficiency syndrome X-linked creatine transporter deficiency X-linked mental retardation with creatine transport deficiency X-linked mental retardation with seizures, short stature, and midface hypoplasia creatine deficiency syndrome 1 creatine deficiency, X-linked creatine transporter defect creatine transporter deficiency rgd_disease_ontology DOID:0050800 cerebral creatine deficiency syndrome 1 A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO) MIM:300352 PMID:17603797 An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO) EFO:0004191 GARD:9269 alopecia androgenetica, male pattern baldness androgenetic alopecia rgd_disease_ontology DOID:0050801 androgenic alopecia An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO) https://ghr.nlm.nih.gov/condition/androgenetic-alopecia An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO) Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type progeroid variant of Ehlers-Danlos syndrome MIM:615349 MONDO:0014139 ORDO:536467 EDSP2 EDSSPD2 Ehlers-Danlos syndrome, progeroid type, 2 rgd_disease_ontology DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO) http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO) rgd 2017-09-21T00:00:00Z rgd_disease_ontology DOID:0050803 glioblastoma classical subtype A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO) PMID:20129251 PMID:23029035 http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO) rgd 2017-09-21T00:00:00Z rgd_disease_ontology DOID:0050804 glioblastoma proneural subtype A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO) PMID:20129251 PMID:23029035 http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO) rgd 2017-09-21T00:00:00Z rgd_disease_ontology DOID:0050805 glioblastoma mesenchymal subtype A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO) PMID:20129251 PMID:23029035 http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO) rgd 2017-09-21T00:00:00Z rgd_disease_ontology DOID:0050806 glioblastoma neural subtype A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO) PMID:20129251 PMID:23029035 http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO) MIM:612713 SRD5A3-RELATED CONDITION MESH:C567196 ORDO:168972 KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome mental retardation, cataract, coloboma, and kyphosis, autosomal recessive rgd_disease_ontology DOID:0050807 Kahrizi syndrome A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO) MIM:612713 ORDO:168972 A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO) MIM:601492 MESH:C563209 NCI:C129073 ORDO:67041 DEFICIENCY OF HYALURONOGLUCOSAMINIDASE MPS IX MPS9 hyaluronidase deficiency mucopolysaccharidosis type IX rgd_disease_ontology DOID:0050809 mucopolysaccharidosis IX A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO) http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO) MESH:C531633 B7 deficiency rgd_disease_ontology DOID:0050810 biotin deficiency A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO) http://en.wikipedia.org/wiki/Biotin_deficiency http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html https://www.ncbi.nlm.nih.gov/books/NBK547751/ A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO) GARD:1467 ICD10CM:E25 ICD9CM:255.2 MESH:D000312 MONDO:0018479 ORDO:418 adrenal hypoplasia congenita congenital adrenal hyperplasias rgd_disease_ontology DOID:0050811 congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO) MIM:201710 ORDO:418 http://www.genome.jp/dbget-bin/www_bget?ds:H00216 A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO) MESH:C567551 MESH:C567552 MIM:612847 MONDO:0019666 ORDO:93282 BCYM4 PAPSS2-RELATED CONDITION SEMD, Pakistani type SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE brachyolmia type 4 with mild epiphyseal and metaphyseal changes spondylodysplasia and premature pubarche rgd_disease_ontology DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO) MIM:612847 ORDO:93282 A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO) MESH:C535789 MIM:143095 MONDO:0007738 ORDO:263463 ORDO:93280 CDMD CHST3-RELATED DISORDER CHST3-related skeletal dysplasia HSD Kozlowski Celermajer Tink syndrome Omani type of spondyloepiphyseal dysplasia SED with luxations, CHST3 type SED, Omani type SEDCJD chondrodysplasia with multiple dislocations humero-spinal dysostosis humero-spinal dysostosis with congenital heart disease humerospinal dysostosis spondyloepiphyseal dysplasia, CHST3-related spondyloepiphyseal dysplasia, Omani type rgd_disease_ontology Omani Type DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO) http://www.uniprot.org/diseases/DI-01753 A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO) MIM:605282 GARD:9679 MESH:C536958 ORDO:363417 CHSY1-RELATED CONDITION Preaxial brachydactyly syndrome, Temtamy type TPBS rgd_disease_ontology DOID:0050814 temtamy preaxial brachydactyly syndrome A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO) ORDO:363417 PMID:21129728 http://www.sciencedirect.com/science/article/pii/S1769721213002449 A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO) GARD:2781 MESH:C536480 MIM:PS236730 ORDO:2704 Inverted smile and occult neuropathic bladder Ochoa syndrome UFS hydronephrosis with peculiar facial expression hydronephrosis-inverted smile inverted smile-neurogenic bladder partial facial palsy with urinary abnormalities urofacial Ochoa's syndrome rgd_disease_ontology DOID:0050816 urofacial syndrome A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO) MIM:236730 ORDO:2704 http://en.wikipedia.org/wiki/Urofacial_syndrome An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO) rgd 2017-11-08T00:00:00Z GARD:181 MESH:D000080362 MIM:PS248200 MONDO:0019353 NCI:C85078 ORDO:827 STGD Stargardt macular degeneration Stargardt's disease juvenile macular degeneration rgd_disease_ontology DOID:0050817 Stargardt disease An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO) http://en.wikipedia.org/wiki/Stargardt_disease A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO) MIM:275350 MONDO:0010149 NCI:C142806 ORDO:859 TC II deficiency TCN2 deficiency rgd_disease_ontology DOID:0050818 transcobalamin II deficiency A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO) MIM:275350 https://www.orpha.net/data/patho/GB/uk-TCII.pdf true A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO) EFO:0005305 ICD10CM:I44.3 ICD9CM:426.10 MESH:D054537 NCI:C26703 AV block AV blocks Atrioventricular Blocks Atrioventricular Conduction Block Atrioventricular Conduction Blocks rgd_disease_ontology AV Block Third Degree Adverse Event DOID:0050820 atrioventricular block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO) http://en.wikipedia.org/wiki/Atrioventricular_block An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO) rgd 2016-03-10T00:00:00Z MONDO:0000466 rgd_disease_ontology DOID:0050821 first-degree atrioventricular block An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO) https://en.wikipedia.org/wiki/First-degree_atrioventricular_block An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO) rgd 2017-10-24T00:00:00Z MONDO:0000467 idiopathic second-degree atrioventricular block second-degree heart block rgd_disease_ontology DOID:0050822 second-degree atrioventricular block An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO) https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO) rgd 2017-10-24T00:00:00Z MONDO:0000468 complete AV block rgd_disease_ontology DOID:0050823 third-degree atrioventricular block An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO) https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO) rgd 2017-10-17T00:00:00Z MONDO:0000469 SA node sinoatrial node disorder sinuatrial node rgd_disease_ontology DOID:0050824 sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO) http://en.wikipedia.org/wiki/Sinoatrial_node A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO) rgd 2017-10-17T00:00:00Z rgd_disease_ontology DOID:0050825 endocardium disease A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO) http://en.wikipedia.org/wiki/Endocardium A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO) rgd 2017-10-19T00:00:00Z EFO:0009568 ICD10CM:I07 ICD9CM:397.0 MONDO:0000471 NCI:C197960 RH. tricuspid valve disease disease of tricuspid valve rheumatic disease of tricuspid valve rheumatic tricuspid valve disease tricuspid disease rgd_disease_ontology DOID:0050826 tricuspid valve disease A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/ A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO) EFO:1001161 MESH:D012214 Bouillaud disease Bouillaud's Disease Bouillauds Disease rheumatic carditis rheumatic heart diseases rgd_disease_ontology DOID:0050827 rheumatic heart disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO) http://en.wikipedia.org/wiki/Rheumatic_heart_disease A vascular disease that is located_in an artery. (DO) rgd 2017-10-18T00:00:00Z MIM:108000 MONDO:0000473 arterial disease arterial disorder rgd_disease_ontology DOID:0050828 artery disease A vascular disease that is located_in an artery. (DO) http://en.wikipedia.org/wiki/Artery#Pathology A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000474 rgd_disease_ontology DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO) http://en.wikipedia.org/wiki/Pericardium An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO) EFO:0004265 MESH:D058729 peripheral arterial disease peripheral arterial diseases peripheral artery diseases rgd_disease_ontology DOID:0050830 peripheral artery disease An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO) http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO) GARD:10037 MESH:C536841 MIM:604218 MONDO:0011412 NCI:C214861 ORDO:85110 FENIB SERPINI1-related disorder familial dementia with neuroserpin inclusion bodies familial encephalopathy with Collins bodies rgd_disease_ontology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO) http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies http://www.jbc.org/content/277/19/17367 https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0050832 pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO) http://en.wikipedia.org/wiki/Pyrimidine_metabolism A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO) MIM:258900 MESH:C537136 NCI:C98944 ORDO:30 OPRT AND ODC DEFICIENCY OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY OROTIC ACIDURIA I Orotate phosphoribosyltransferase and omp decarboxylase deficiency Oroticaciduria 1 Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency UMP SYNTHASE DEFICIENCY UMPS-RELATED CONDITION Uridine monophosphate synthase deficiency hereditary orotic aciduria hereditary orotic aciduria, type 1 uridine monophosphate synthetase deficiency OAWA UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA rgd_disease_ontology DOID:0050833 orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO) http://en.wikipedia.org/wiki/Orotic_aciduria http://www.omim.org/entry/258900 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO) MIM:214800 CHD7 DISORDER CHD7-RELATED CONDITION GARD:29 MESH:D058747 NCI:C75100 ORDO:138 CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies CHARGE Associations CHARGE Syndromes CHARGE association CHD7-RELATED CHARGE SYNDROME HHS Hall Hittner syndrome familial CHARGE syndrome familial CHARGE syndromes rgd_disease_ontology DOID:0050834 CHARGE syndrome A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO) ORDO:138 http://en.wikipedia.org/wiki/CHARGE_syndrome http://ghr.nlm.nih.gov/condition/charge-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract A dystonia that affects most or all of the body. (DO) rgd 2017-11-06T00:00:00Z ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.8 MONDO:0000476 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 ORDO:376724 fragments of torsion dystonia idiopathic familial dystonia idiopathic non-familial dystonia symptomatic torsion dystonia rgd_disease_ontology DOID:0050835 generalized dystonia A dystonia that affects most or all of the body. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that is localized to a specific part of the body. (DO) MIM:611284 GARD:6458 MESH:C566973 FTSD Musician's Dystonia focal dystonia, task-specific focal dystonias occupational cramp occupational dystonia task-specific dystonia rgd_disease_ontology DOID:0050836 focal dystonia A dystonia that is localized to a specific part of the body. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that involves two or more unrelated body parts. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000478 rgd_disease_ontology DOID:0050837 multifocal dystonia A dystonia that involves two or more unrelated body parts. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that affects two or more adjacent parts of the body. (DO) rgd 2017-10-18T00:00:00Z rgd_disease_ontology DOID:0050838 segmental dystonia A dystonia that affects two or more adjacent parts of the body. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO) rgd 2017-10-23T00:00:00Z RDO:9003190 rgd_disease_ontology DOID:0050839 anismus A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO) https://en.wikipedia.org/wiki/Anismus A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO) GARD:10668 MESH:D014103 Psychogenic Torticollis Spasmodic Torticollis Torticollis intermittent torticollis wryneck rgd_disease_ontology DOID:0050840 cervical dystonia A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO) http://en.wikipedia.org/wiki/Spasmodic_torticollis http://www.ncbi.nlm.nih.gov/books/NBK1155/ A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO) rgd 2017-11-06T00:00:00Z ICD9CM:333.84 organic writer's cramp rgd_disease_ontology DOID:0050841 focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO) http://en.wikipedia.org/wiki/Dystonia A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO) rgd 2017-10-23T00:00:00Z MONDO:0000483 rgd_disease_ontology DOID:0050842 oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO) http://en.wikipedia.org/wiki/Oculogyric_crisis A focal dystonia that is characterized by distortions of the mouth and tongue. (DO) rgd 2017-10-23T00:00:00Z MONDO:0019771 ORDO:93958 rgd_disease_ontology DOID:0050843 oromandibular dystonia A focal dystonia that is characterized by distortions of the mouth and tongue. (DO) http://en.wikipedia.org/wiki/Oromandibular_dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO) rgd 2017-10-23T00:00:00Z laryngeal dystonia rgd_disease_ontology DOID:0050844 spasmodic dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO) http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO) rgd 2017-10-23T00:00:00Z MONDO:0000486 rgd_disease_ontology DOID:0050845 cranio-facial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A multifocal dystonia that involves the arm and leg on the same side of the body. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0050846 hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. (DO) http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO) EFO:0003877 ICD9CM:780.57 MESH:D012891 MONDO:0005296 NCI:C26884 hypersomnia with periodic respiration sleep apnea syndrome sleep apneas sleep disordered breathing sleep hypopnea rgd_disease_ontology DOID:0050847 sleep apnea A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO) http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO) MIM:107650 EFO:0003918 ICD10CM:G47.33 ICD9CM:327.23 MESH:D020181 NCI:C116337 NCI:C27168 OSAHS Sleep Apnea Hypopnea Syndrome obstructive sleep apnea syndrome obstructive sleep apneas upper airway resistance sleep apnea syndrome rgd_disease_ontology DOID:0050848 obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO) http://en.wikipedia.org/wiki/Obstructive_sleep_apnea http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO) slaulederkind 2010-03-19T00:00:00Z periampullary adenoma, somatic rgd_disease_ontology DOID:0050849 periampullary adenoma An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO) diabetic encephalopathies rgd_disease_ontology DOID:0050850 diabetic encephalopathy A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO) PMID:20798963 http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO) rgd_disease_ontology DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO) http://en.wikipedia.org/wiki/Glomerulosclerosis An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO) rgd_disease_ontology DOID:0050852 limb ischemia An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO) https://en.wikipedia.org/wiki/Ischemia A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO) EFO:0007940 MONDO:0000492 Chronic Venous Disease Chronic Venous Insufficiencies rgd_disease_ontology DOID:0050853 chronic venous insufficiency A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO) https://en.wikipedia.org/wiki/Chronic_venous_insufficiency A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO) GARD:8472 ICD10CM:M04.2 MIM:191900 NCI:C119054 ORDO:575 CAPS2 FAMILIAL AMYLOID NEPHROPATHY WITH URTICARIA AND DEAFNESS MWS UDA syndrome cryopyrin-associated periodic syndrome 2 neutrophilic urticaria urticaria-deafness-amyloidosis syndrome rgd_disease_ontology DOID:0050854 Muckle-Wells syndrome A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO) PMID:11687797 PMID:11992256 A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO) EFO:1001517 MONDO:0000494 kidney fibrosis rgd_disease_ontology DOID:0050855 renal fibrosis A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/ A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO) rgd_disease_ontology DOID:0050856 oppositional defiant disorder true A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO) https://en.wikipedia.org/wiki/Oppositional_defiant_disorder A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO) rgd 2017-11-16T00:00:00Z GARD:2542 MIM:PS233400 MONDO:0017312 ORDO:2855 rgd_disease_ontology DOID:0050857 Perrault syndrome A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO) PMID:23541340 http://ghr.nlm.nih.gov/gene/LARS2 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO) NFIX-RELATED CONDITION NFIX-RELATED DISORDER GARD:6985 MESH:C536026 MIM:602535 MONDO:0011244 ORDO:561 MRSHSS rgd_disease_ontology DOID:0050858 Marshall-Smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO) http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO) MONDO:0000496 rgd_disease_ontology DOID:0050859 hemorrhagic cystitis A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO) https://en.wikipedia.org/wiki/Hemorrhagic_cystitis An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO) EFO:0005406 EFO:1000197 MONDO:0005484 NCI:C5673 Colorectal Sessile Serrated Adenoma/Polyp rgd_disease_ontology colonic adenoma recurrence, reduced risk of DOID:0050860 colorectal adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO) https://en.wikipedia.org/wiki/Colorectal_adenoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO) EFO:0000365 EFO:0009361 EFO:1000196 MONDO:0005008 NCI:C5105 ADENOCARCINOMA OF THE LARGE INTESTINE colorectal mucinous adenocarcinoma colorectal serrated adenocarcinoma rgd_disease_ontology DOID:0050861 colorectal adenocarcinoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO) http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma http://en.wikipedia.org/wiki/Adenocarcinoma A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO) rgd_disease_ontology DOID:0050862 pyometritis A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO) PMID:16284801 An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO) rgd 2017-11-06T00:00:00Z MONDO:0000498 rgd_disease_ontology DOID:0050863 arteritic anterior ischemic optic neuropathy An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO) https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO) AION MIM:258660 NAION non-arteritic AION non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy rgd_disease_ontology NAION, SUSCEPTIBILITY TO anterior ischemic optic neuropathy, susceptibility to nonarteritic anterior ischemic optic neuropathy, susceptibility to DOID:0050864 non-arteritic anterior ischemic optic neuropathy An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/ A head and neck squamous cell carcinoma that is located_in the tongue. (DO) EFO:1000055 NCI:C4648 RDO:9000054 SCCT rgd_disease_ontology DOID:0050865 tongue squamous cell carcinoma A head and neck squamous cell carcinoma that is located_in the tongue. (DO) http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An oral cavity cancer that has_material_basis_in squamous cells. (DO) EFO:0000199 GARD:7263 NCI:C132823 OSCC mouth squamous cell carcinoma rgd_disease_ontology DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. (DO) http://en.wikipedia.org/wiki/Squamous-cell_carcinoma true A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO) EFO:0000762 MESH:D018248 ORDO:54272 Benign Hepatoma benign hepatomas hepatocellular adenomas liver cell adenoma liver cell adenomas rgd_disease_ontology DOID:0050868 hepatocellular adenoma A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO) https://en.wikipedia.org/wiki/Hepatocellular_adenoma An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO) ICDO:8261/0 MESH:D018253 villous adenomas rgd_disease_ontology DOID:0050869 villous adenoma An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO) https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO) rgd 2017-09-12T00:00:00Z rgd_disease_ontology DOID:0050870 pulmonary adenocarcinoma in situ A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO) http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO) EFO:0000497 EFO:0002424 EFO:1000148 EFO:1000556 ICDO:8810/0 MESH:D005350 Fibromyxoma fibromas fibromatoses fibromatosis fibromyxomas myxofibroma myxofibromas Superficial Fibromatosis rgd_disease_ontology DOID:0050871 fibroma A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO) https://en.wikipedia.org/wiki/Fibroma A lung large cell carcinoma that derives_from neuroendocrine cells. (DO) rgd 2017-11-03T00:00:00Z EFO:0000563 ICDO:8013/3 rgd_disease_ontology DOID:0050872 large cell neuroendocrine carcinoma A lung large cell carcinoma that derives_from neuroendocrine cells. (DO) PMID:15999058 A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO) EFO:1000211 GARD:2356 ICDO:9690/3 MESH:D008224 MIM:613024 MIM:621230 MIM:PS613024 MONDO:0018906 NCI:C3209 NCI:C3465 ORDO:545 BCL2 apoptosis regulator Brill Symmers Disease Follicular Large Cell Lymphoma Follicular Lymphomas Follicular Mixed Cell Lymphoma Follicular Mixed-Cell Lymphomas Giant Follicular Lymphoma Giant Follicular Lymphomas Large Lymphoid Lymphoma, Nodular Lymphocytic Lymphoma, Nodular, Poorly Differentiated Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic Lymphoma, Follicular, Mixed Small and Large Lymphoid Lymphoma, Follicular, Small and Large Cleaved Cell Lymphoma, Nodular, Mixed Lymphocytic Histiocytic Lymphoma, Nodular, Mixed Small and Large Cell Lymphoma, Small Lymphoid, Follicular Nodular Histiocytic Lymphoma Nodular Histiocytic Lymphomas Nodular Large Follicular Center Cell Lymphoma Nodular Lymphoma follicular large-cell lymphomas follicular small cleaved cell lymphoma nodular lymphomas small follicular center cell lymphoma Cutaneous Follicular Lymphoma FL1 FL2 follicular lymphoma, grade 1 follicular lymphoma, grade 2 follicular lymphoma, grade 3 follicular lymphoma, somatic rgd_disease_ontology follicular lymphoma, susceptibility to, 1 follicular lymphoma, susceptibility to, 2 DOID:0050873 follicular lymphoma A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO) http://en.wikipedia.org/wiki/Follicular_lymphoma http://www.cancer.gov/dictionary?CdrID=428287 follicular lymphoma, susceptibility to, 1 1 true A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO) EFO:1001286 GARD:6002 MESH:D016767 MONDO:0010913 NCI:C84619 ORDO:53035 Caroli's disease Carolis Disease rgd_disease_ontology DOID:0050876 Caroli disease A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO) http://en.wikipedia.org/wiki/Caroli_disease http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO) DOID:9003314 DOID:9009230 PDX1-RELATED DISORDER GARD:4203 MESH:C564908 MIM:PS260370 MONDO:0009832 ORDO:2805 PAGEN congenital pancreatic agenesis congenital pancreatic hypoplasia pancreatic hypoplasia partial pancreatic agenesis rgd_disease_ontology DOID:0050877 pancreatic agenesis A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO) MIM:300623 MESH:C564105 NCI:C126566 ORDO:93256 FXTAS FXTAS syndrome Fragile X Tremor Ataxia Syndrome rgd_disease_ontology DOID:0050879 fragile X-associated tremor/ataxia syndrome A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO) MIM:300623 ORDO:93256 PMID:18195136 http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO) DOID:0070076 MIM:610443 RDO:0014820 GARD:10727 MESH:C566476 ORDO:363958 ORDO:96169 17q21.31 deletion syndrome 17q21.31 microdeletion syndrome Chromosome 17q21.31 Deletion Syndrome Chromosome 17q21.31 Microdeletion Syndrome KANSL1-RELATED CONDITION KANSL1-related intellectual disability syndrome KDVS Koolen syndrome monosomy 17q21.31 rgd_disease_ontology DOID:0050880 Koolen de Vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO) MIM:610443 ORDO:96169 PMID:19447831 PMID:22544363 PMID:22544367 http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome http://www.17q21.com/en/ http://www.ncbi.nlm.nih.gov/books/NBK24676/ A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO) MESH:C563476 MIM:PS167320 ORDO:52430 IBMPFD INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia Lower Motor Neuron Degeneration With Paget-Like Bone Disease Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone Pagetoid Amyotrophic Lateral Sclerosis inclusion body myopathy with Paget's disease of bone and frontotemporal dementia inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia pagetoid neuroskeletal syndrome rgd_disease_ontology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO) MIM:167320 PMID:19380227 PMID:21304887 PMID:21892620 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO) rgd 2017-10-26T00:00:00Z SPTBN2-related condition GARD:4953 MIM:600224 MONDO:0010848 ORDO:98766 SCA5 spinocerebellar ataxia type 5 rgd_disease_ontology DOID:0050882 spinocerebellar ataxia 5 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO) ORDO:98766 PMID:20368622 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO) ACO2-RELATED CONDITION ACO2-RELATED DISORDER ACO2-RELATED DISORDERS GARD:13264 MIM:614559 ORDO:313850 ICRD rgd_disease_ontology DOID:0050883 infantile cerebellar-retinal degeneration A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO) MIM:614559 ORDO:313850 PMID:22405087 PMID:23438437 http://www.uniprot.org/diseases/DI-03409 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO) MIM:615512 GARD:5287 MESH:C566029 NCI:C131652 ORDO:868 TPID triose phosphate-isomerase deficiency rgd_disease_ontology TPI-Hungary DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO) MIM:615512 ORDO:868 PMID:16980388 PMID:17424909 PMID:23318931 http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO) MIM:202155 MIM:614732 GARD:12312 MESH:C564543 ORDO:85173 Adrenal Hypoplasia, Cytomegalic Type IMAGE intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies rgd_disease_ontology DOID:0050885 IMAGe syndrome A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO) MIM:614732 ORDO:85173 PMID:14760276 PMID:22634751 PMID:23719190 PMID:24065356 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO) MIM:275900 GARD:5372 MESH:C536858 ORDO:101000 Cross-McKusick syndrome SPART-RELATED CONDITION SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20 spastic paraplegia with distal muscle wasting rgd_disease_ontology DOID:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO) MIM:275900 PMID:20301556 http://en.wikipedia.org/wiki/SPG20 http://ghr.nlm.nih.gov/condition/troyer-syndrome http://ghr.nlm.nih.gov/gene/SPG20 http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO) GARD:7784 MESH:C536974 MIM:107480 MIM:PS107480 MONDO:0007142 ORDO:857 Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome REAR syndrome SALL1-RELATED CONDITION TBS1 Townes Syndrome Townes-Brocks syndrome 1 anal-ear-renal-radial malformation syndrome imperforate anus with hand, foot, and ear anomalies imperforate anus-hand and foot anomalies syndrome renal-ear-anal-radial syndrome renal-ear-anal-radial syndrome (rear) sensorineural deafness with imperforate anus and hypoplastic thumbs sensorineural deafness with imperforate anus and thumb anomalies sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome rgd_disease_ontology Townes-Brocks-branchiootorenal-like syndrome DOID:0050887 Townes-Brocks syndrome A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO) PMID:12925729 http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome http://www.omim.org/entry/107480 http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO) http://en.wikipedia.org/wiki/Intellectual_disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO) rgd 2017-11-10T00:00:00Z rgd_disease_ontology DOID:0050889 non-syndromic intellectual disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO) http://en.wikipedia.org/wiki/Intellectual_disability http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO) rgd 2017-07-13T00:00:00Z MESH:D000080874 MONDO:0000510 a-synucleinopathies a-synucleinopathy alpha synuclein pathologies alpha synuclein pathology alpha synucleinopathies alpha-synucleinopathy synucleinopathies α-synucleinopathy rgd_disease_ontology DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO) http://en.wikipedia.org/wiki/Synucleinopathies An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO) EFO:0003104 EFO:1000208 EFO:1000399 EFO:1000523 ICDO:8370/0 MESH:D018246 NCI:C9003 Conn Adenoma Conn adenomas Conn disease Conn's disease Conns disease adrenal cortical adenomas adrenocortical adenoma adrenocortical adenomas Aldosterone Producing Adrenal Cortex Adenoma Cortisol-Producing Adrenal Cortex Adenoma Non-Functioning Adrenal Cortex Adenoma Sex Hormone-Producing Adrenal Cortex Adenoma rgd_disease_ontology DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO) http://en.wikipedia.org/wiki/Adrenocortical_adenoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO) rgd 2017-02-06T17:14:16Z EFO:0000239 EFO:1000348 MONDO:0004974 NCI:C121568 NCI:C134960 NCI:C3326 ADRENAL PHEOCHROMOCYTOMA malignant adrenal gland pheochromocytoma rgd_disease_ontology DOID:0050892 adrenal gland pheochromocytoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO) http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma http://en.wikipedia.org/wiki/Pheochromocytoma http://www.cancer.gov/cancertopics/types/pheochromocytoma A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO) rgd 2017-10-24T00:00:00Z EFO:1000263 rgd_disease_ontology DOID:0050893 gallbladder adenoma A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO) http://en.wikipedia.org/wiki/Adenoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO) EFO:1000487 GARD:5747 ICDO:9310/0 MESH:D000564 MONDO:0017795 NCI:C4313 ORDO:314419 ameloblastomas plexiform ameloblastoma rgd_disease_ontology DOID:0050894 ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO) http://en.wikipedia.org/wiki/Ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO) rgd_disease_ontology DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO) http://en.wikipedia.org/wiki/Ameloblastoma A bone carcinoma that derives_from squamous epithelial cells. (DO) rgd_disease_ontology DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells. (DO) http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A chondrosarcoma that is located_in bone. (DO) rgd 2017-10-30T00:00:00Z EFO:0010832 rgd_disease_ontology DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone. (DO) http://en.wikipedia.org/wiki/Chondrosarcoma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO) rgd 2017-10-31T00:00:00Z MONDO:0000516 rgd_disease_ontology DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO) http://en.wikipedia.org/wiki/Chondroma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO) rgd 2017-10-18T00:00:00Z rgd_disease_ontology DOID:0050899 brain stem medulloblastoma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO) http://en.wikipedia.org/wiki/Medulloblastoma A spinal chordoma that is located_in the sacrum. (DO) rgd 2017-11-01T00:00:00Z NCI:C129927 sacral chordoma rgd_disease_ontology DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum. (DO) http://en.wikipedia.org/wiki/Sacrum http://www.cancer.gov/dictionary?CdrID=45297 A brain oligodendroglioma located_in the corpus callosum. (DO) rgd 2017-10-30T00:00:00Z rgd_disease_ontology DOID:0050901 corpus callosum oligodendroglioma A brain oligodendroglioma located_in the corpus callosum. (DO) http://en.wikipedia.org/wiki/Corpus_callosum http://en.wikipedia.org/wiki/Oligodendroglioma http://www.cancer.gov/dictionary?CdrID=46257 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO) ELP1-related condition PTCH2-related condition EFO:0002939 GARD:7005 ICDO:9470/3 MESH:D008527 MIM:155255 MONDO:0007959 NCI:C27294 NCI:C3222 NCI:C3716 ORDO:616 CNS PNET CPNET MDB brain medulloblastoma circumscribed arachnoidal cerebellar sarcoma desmoplastic medulloblastoma desmoplastic medulloblastomas infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor medulloblastoma predisposition syndrome medulloblastomas melanocytic medulloblastoma ELP1-ASSOCIATED MEDULLOBLASTOMA MBEN classic medulloblastoma medulloblastoma with extensive nodularity medulloblastoma, histologically defined medulloblastoma, somatic rgd_disease_ontology GPR161-RELATED DISORDER DOID:0050902 medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO) http://en.wikipedia.org/wiki/Medulloblastoma http://www.cancer.gov/dictionary?CdrID=45780 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO) rgd 2017-11-02T00:00:00Z rgd_disease_ontology DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO) http://www.cancer.gov/dictionary?CdrID=46432 A salivary gland cancer that has_material_basis_in epithelial cells. (DO) rgd 2017-09-21T00:00:00Z EFO:1000344 EFO:1000379 EFO:1000514 EFO:1000516 EFO:1000517 EFO:1001967 Major Salivary Gland Carcinoma Minor Salivary Gland Adenocarcinoma Salivary Gland Adenosquamous Carcinoma Salivary Gland Basal Cell Adenocarcinoma Salivary Gland Large Cell Carcinoma salivary gland squamous cell carcinoma rgd_disease_ontology DOID:0050904 salivary gland carcinoma A salivary gland cancer that has_material_basis_in epithelial cells. (DO) http://en.wikipedia.org/wiki/Salivary_gland_neoplasm http://www.cancer.gov/dictionary?CdrID=45963 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO) EFO:1000127 EFO:1000333 EFO:1000510 GARD:7146 myofibroblastic tumor Bladder Inflammatory Myofibroblastic Tumor Lung Inflammatory Myofibroblastic Tumor Retroperitoneal Inflammatory Myofibroblastic Tumor rgd_disease_ontology DOID:0050905 inflammatory myofibroblastic tumor A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO) PMID:23091756 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO) rgd 2017-10-02T00:00:00Z EFO:1000205 MONDO:0006172 rgd_disease_ontology DOID:0050906 conjunctival nevus A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO) http://en.wikipedia.org/wiki/Conjunctiva http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO) rgd 2017-10-24T00:00:00Z MONDO:0000524 rgd_disease_ontology DOID:0050907 mixed extragonadal germ cell cancer A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO) http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed http://www.cancer.gov/dictionary?CdrID=444993 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO) ACSL6-RELATED CONDITION ASXL1-RELATED CONDITION TET2-RELATED CONDITION EFO:0000198 GARD:7132 ICDO:9989/3 MESH:D009190 MIM:614286 MONDO:0018881 NCI:C3247 ORDO:52688 MDS SF3B1-RELATED CONDITION dysmyelopoietic syndrome dysmyelopoietic syndromes hematopoetic myelodysplasia hematopoetic myelodysplasias myelodysplastic syndromes myelodysplasia myelodysplastic syndrome progressed to acute myeloid leukemia rgd_disease_ontology myelodysplastic syndrome, susceptibility to DOID:0050908 myelodysplastic syndrome A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO) http://en.wikipedia.org/wiki/Myelodysplastic_syndrome http://www.cancer.gov/dictionary?CdrID=45266 A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO) rgd 2017-10-11T00:00:00Z EFO:0000191 EFO:1000146 EFO:1000537 EFO:1000591 ICDO:9699/3 MIM:137245 NCI:C3898 ORDO:52417 LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE Lymphoma of Mucosa Associated Lymphoid Tissue MALT LYMPHOMA, SOMATIC MALT lymphoma MALT lymphoma of the dura mucosa associated lymphoid tissue lymphoma Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma breast mucosa-associated lymphoid tissue lymphoma thyroid gland mucosa-associated lymphoid tissue lymphoma rgd_disease_ontology DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO) http://www.cancer.gov/dictionary?CdrID=45774 http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) rgd 2017-10-24T00:00:00Z EFO:1000155 MONDO:0000525 caecum adenoma cecum villous adenoma rgd_disease_ontology DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) http://en.wikipedia.org/wiki/Adenoma An appendix cancer that has_material_basis_in neurodendocrine cells. (DO) EFO:1000090 EFO:1000092 appendix carcinoid endocrine tumour Appendix Goblet Cell Carcinoid Appendix Neuroendocrine Tumor G1 rgd_disease_ontology DOID:0050911 appendix carcinoid tumor An appendix cancer that has_material_basis_in neurodendocrine cells. (DO) http://en.wikipedia.org/wiki/Carcinoid http://www.cancer.gov/dictionary?CdrID=44233 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) rgd 2017-09-13T00:00:00Z rgd_disease_ontology DOID:0050912 colon adenoma A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) http://en.wikipedia.org/wiki/Colorectal_adenoma http://www.cancer.gov/dictionary?CdrID=46217 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO) rgd 2017-09-05T00:00:00Z rgd_disease_ontology DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO) http://www.cancer.gov/dictionary?CdrID=46216 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO) rgd 2017-10-24T00:00:00Z rgd_disease_ontology DOID:0050914 large intestine adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO) http://en.wikipedia.org/wiki/Adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) rgd 2017-10-24T00:00:00Z EFO:1000503 EFO:1000504 EFO:1000505 EFO:1000506 NCI:C5546 rectum adenoma Rectal Tubulovillous Adenoma rectal traditional serrated adenoma rectal tubular adenoma rectal villous adenoma rgd_disease_ontology DOID:0050915 rectal adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) http://en.wikipedia.org/wiki/Adenoma A mucoepidermoid carcinoma located_in the bronchus. (DO) rgd 2017-10-31T00:00:00Z rgd_disease_ontology DOID:0050916 bronchus mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the bronchus. (DO) http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0050917 lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO) http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma http://www.cancer.gov/dictionary?CdrID=45327 http://www.cancer.gov/dictionary?CdrID=46216 A vaginal cancer that has_material_basis_in epithelial cells. (DO) rgd 2017-11-01T00:00:00Z EFO:1000617 EFO:1000620 Vaginal Adenoid Cystic Carcinoma Vaginal Squamous Cell Carcinoma rgd_disease_ontology DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells. (DO) http://en.wikipedia.org/wiki/Carcinoma A mucoepidermoid carcinoma located_in the trachea. (DO) rgd 2017-09-25T00:00:00Z rgd_disease_ontology DOID:0050919 trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the trachea. (DO) http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A tonsil cancer that has_material_basis_in squamous cells. (DO) rgd 2017-09-28T00:00:00Z MONDO:0006470 NCI:C8183 tonsillar squamous cell carcinoma rgd_disease_ontology DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells. (DO) http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A pharynx cancer that has_material_basis_in squamous cells. (DO) rgd 2017-09-28T00:00:00Z EFO:1001965 MONDO:0000536 NCI:C102872 pharyngeal squamous cell carcinoma rgd_disease_ontology DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells. (DO) http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO) rgd 2017-11-03T00:00:00Z EFO:1000218 MONDO:0006181 digestive system carcinoma rgd_disease_ontology DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO) http://en.wikipedia.org/wiki/Carcinoma A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO) rgd 2017-10-23T00:00:00Z EFO:1000593 MONDO:0006466 SETTLE tumor SETTLE tumour spindle epithelial tumour with thymus-like differentiation tumour rgd_disease_ontology DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO) PMID:19417583 PMID:2050369 http://www.pathologyoutlines.com/topic/thyroidsettle.html http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO) rgd 2017-11-13T00:00:00Z MONDO:0000539 rgd_disease_ontology DOID:0050924 striated muscle rhabdoid tumor A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO) http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour http://www.cancer.gov/dictionary?CdrID=46139 A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO) rgd 2017-11-09T00:00:00Z intestinal carcinoid tumour rgd_disease_ontology DOID:0050925 small intestine carcinoid neuroendocrine tumor A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO) http://en.wikipedia.org/wiki/Carcinoid A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO) rgd_disease_ontology DOID:0050926 jejunal adenocarcinoma A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO) http://en.wikipedia.org/wiki/Adenocarcinoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) rgd 2017-10-24T00:00:00Z EFO:1000225 Duodenal Villous Adenoma rgd_disease_ontology DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO) http://en.wikipedia.org/wiki/Adenoma An ovarian cancer that has_material_basis_in melanoctyes. (DO) rgd 2017-09-06T00:00:00Z rgd_disease_ontology DOID:0050928 ovarian melanoma An ovarian cancer that has_material_basis_in melanoctyes. (DO) PMID:15166669 http://en.wikipedia.org/wiki/Melanoma http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO) rgd 2017-09-05T00:00:00Z NCI:C114828 rgd_disease_ontology DOID:0050929 mucosal melanoma A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO) rgd_disease_ontology DOID:0050930 sublingual gland adenoid cystic carcinoma A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO) http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO) EFO:1000459 rgd_disease_ontology DOID:0050931 parotid gland adenoid cystic carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO) http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma http://en.wikipedia.org/wiki/Parotid_gland A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO) rgd 2017-09-12T00:00:00Z EFO:0006740 EFO:1000038 MONDO:0005616 NCI:C45544 pulmonary mucoepidermoid carcinoma rgd_disease_ontology DOID:0050932 lung mucoepidermoid carcinoma A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO) http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO) EFO:1001516 serous carcinoma of ovary rgd_disease_ontology DOID:0050933 ovarian serous carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO) http://en.wikipedia.org/wiki/Serous_carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO) rgd_disease_ontology DOID:0050934 ovarian clear cell carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO) http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000549 NCI:C213638 rgd_disease_ontology DOID:0050935 cervical neuroblastoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO) PMID:15390353 PMID:9262064 http://en.wikipedia.org/wiki/Neuroblastoma http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO) rgd 2017-10-17T00:00:00Z EFO:1000349 Malignant Bladder Paraganglioma rgd_disease_ontology DOID:0050936 extra-adrenal pheochromocytoma A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO) http://en.wikipedia.org/wiki/Pheochromocytoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO) rgd_disease_ontology DOID:0050937 retroperitoneal neuroblastoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO) http://en.wikipedia.org/wiki/Neuroblastoma http://en.wiktionary.org/wiki/retroperitoneal A breast carcinoma that derives_from breast lobules (milk glands). (DO) EFO:0000570 EFO:0008509 ICDO:8520/3 MESH:D018275 NCI:C3771 lobular carcinoma lobular carcinoma of breast lobular carcinoma of the breast lobular carcinomas rgd_disease_ontology DOID:0050938 breast lobular carcinoma A breast carcinoma that derives_from breast lobules (milk glands). (DO) http://cancergenome.nih.gov/cancersselected/breastlobular http://www.cancer.gov/dictionary?CdrID=426416 A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO) rgd 2017-10-06T00:00:00Z rgd_disease_ontology DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO) rgd 2017-09-14T00:00:00Z MONDO:0000554 rgd_disease_ontology DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO) PMID:12207781 A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO) MIM:611302 MESH:C566969 NCI:C177252 ORDO:397946 SPAX2 spastic ataxia 2, autosomal recessive rgd_disease_ontology DOID:0050941 spastic ataxia 2 A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO) PMID:17273843 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO) MARS2-related condition MESH:C566956 MIM:611390 MONDO:0012664 ORDO:314603 ARSAL Autosomal Recessive Spastic Ataxia With Leukoencephalopathy SPAX3 autosomal recessive spastic ataxia spastic ataxia 3, autosomal recessive rgd_disease_ontology DOID:0050942 spastic ataxia 3 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO) PMID:22448145 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO) MIM:613672 ORDO:254343 MTPAP-RELATED CONDITION SPAX4 spastic ataxia 4, autosomal recessive rgd_disease_ontology DOID:0050943 spastic ataxia 4 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO) PMID:20970105 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO) MIM:614487 MONDO:0013776 ORDO:313772 SPAX5 early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome spastic ataxia 5, autosomal recessive rgd_disease_ontology DOID:0050944 spastic ataxia 5 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO) PMID:22022284 A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO) rgd 2017-10-27T00:00:00Z DOID:9000811 MESH:C566247 MIM:108650 ORDO:1182 SPAX7 spastic ataxia 7, autosomal dominant spastic ataxia with congenital miosis rgd_disease_ontology DOID:0050945 spastic ataxia 7 A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO) PMID:6821680 An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO) GARD:4910 MESH:C536787 MIM:270550 MONDO:0010041 NCI:C154614 ORDO:98 ARSACS SACS SACS-RELATED CONDITION SPAX6 autosomal recessive spastic ataxia of Charlevoix-Saguenay spastic ataxia 6, autosomal recessive spastic ataxia of Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay type rgd_disease_ontology DOID:0050946 Charlevoix-Saguenay spastic ataxia An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO) MIM:270550 PMID:24384335 PMID:26344561 A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO) MIM:241530 MESH:C562793 ORDO:157215 AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC BONE DISEASE HHRH SLC34A3-RELATED CONDITION hypercalciuric rickets hypophosphatemic rickets with hypercalciuria rgd_disease_ontology DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO) http://www.omim.org/entry/241530?search=241530&highlight=241530 http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO) MESH:C562791 MIM:193100 MONDO:0008660 ORDO:89937 ADHR autosomal dominant hypophosphatemia hypophosphatemic rickets, dominant vitamin D-resistant rickets, autosomal dominant rgd_disease_ontology DOID:0050948 autosomal dominant hypophosphatemic rickets A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO) PMID:26365554 http://www.omim.org/entry/193100?search=193100&highlight=193100 A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO) rgd 2017-11-16T00:00:00Z ORDO:289176 DMP1-RELATED CONDITION recessive hypophosphatemic rickets rgd_disease_ontology DOID:0050949 autosomal recessive hypophosphatemic rickets A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO) http://www.omim.org/entry/241520?search=241520&highlight=241520 http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO) rgd 2017-10-31T00:00:00Z MIM:PS213200 ORDO:1172 rgd_disease_ontology DOID:0050950 autosomal recessive cerebellar ataxia A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO) http://www.ncbi.nlm.nih.gov/books/NBK1138/ A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO) rgd 2017-10-31T00:00:00Z EFO:0009671 GARD:6614 hereditary ataxias rgd_disease_ontology DOID:0050951 hereditary ataxia A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO) http://www.ncbi.nlm.nih.gov/books/NBK1138 A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO) MESH:C564815 MIM:PS108600 ORDO:316226 rgd_disease_ontology DOID:0050952 spastic ataxia A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO) PMID:24384335 PMID:26344561 A hereditary ataxia that is characterized by X-linked inheritance. (DO) rgd 2017-10-31T00:00:00Z rgd_disease_ontology DOID:0050953 X-linked hereditary ataxia A hereditary ataxia that is characterized by X-linked inheritance. (DO) https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO) rgd 2017-10-26T00:00:00Z EFO:0003089 GARD:4071 MIM:164400 MONDO:0008119 NCI:C129982 ORDO:98755 ATXN1-RELATED CONDITION CPD1 Menzel type OPCA OPCA I OPCA IV OPCA1 OPCA4 SCA1 Schut Haymaker type OPCA cerebelloparenchymal disorder I olivopontocerebellar atrophy I olivopontocerebellar atrophy IV spinocerebellar ataxia type 1 spinocerebellar atrophy I rgd_disease_ontology DOID:0050954 spinocerebellar ataxia 1 An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO) https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO) rgd 2017-10-26T00:00:00Z MIM:183090 MONDO:0008458 NCI:C148315 ORDO:98756 OPCA2 SCA2 olivopontocerebellar atrophy 2 olivopontocerebellar atrophy II olivopontocerebellar atrophy, Holguin type spinocerebellar ataxia type 2 spinocerebellar ataxia with slow eye movements spinocerebellar ataxia, Cuban type spinocerebellar atrophy 2 spinocerebellar atrophy II spinocerebellar degeneration with slow eye movements rgd_disease_ontology DOID:0050955 spinocerebellar ataxia 2 An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO) https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO) rgd 2017-10-26T00:00:00Z GARD:10351 MIM:183086 MONDO:0008457 NCI:C142838 ORDO:98758 SCA6 spinocerebellar ataxia type 6 rgd_disease_ontology DOID:0050956 spinocerebellar ataxia 6 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO) https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. (DO) rgd 2017-11-02T00:00:00Z GARD:9970 MIM:600223 MONDO:0010847 ORDO:98765 SCA4 spinocerebellar ataxia type 4 spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy rgd_disease_ontology DOID:0050957 spinocerebellar ataxia 4 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. (DO) PMID:38035881 https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO) 2017-11-02T00:00:00Z DOID:9005032 ATXN7-related condition MESH:C538631 MIM:164500 MONDO:0008120 NCI:C126562 ORDO:94147 ADCA, type II OPCA III OPCA with macular degeneration and external ophthalmoplegia OPCA with retinal degeneration OPCA3 SCA7 autosomal dominant cerebellar ataxia, type II olivopontocerebellar atrophy 3 olivopontocerebellar atrophy III spinocerebellar ataxia type 7 rgd_disease_ontology DOID:0050958 spinocerebellar ataxia 7 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO) https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO) MESH:C537307 MIM:608768 MONDO:0012116 ORDO:98760 SCA8 spinocerebellar ataxia type 8 rgd_disease_ontology DOID:0050959 spinocerebellar ataxia 8 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO) https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO) GARD:10474 MESH:C566874 MIM:603516 MONDO:0011330 ORDO:98761 ATXN10-RELATED DISORDER SCA10 spinocerebellar ataxia type 10 rgd_disease_ontology DOID:0050960 spinocerebellar ataxia 10 An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO) https://www.ncbi.nlm.nih.gov/books/NBK1175/ An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO) MESH:C565772 MIM:604432 MONDO:0011464 ORDO:98767 SCA11 TTBK2-related condition spinocerebellar ataxia type 11 rgd_disease_ontology DOID:0050961 spinocerebellar ataxia 11 An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO) https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO) MESH:C565790 MIM:604326 MONDO:0011439 NCI:C154316 ORDO:98762 PPP2R2B-related condition PPP2R2B-related disorder SCA12 spinocerebellar ataxia type 12 rgd_disease_ontology DOID:0050962 spinocerebellar ataxia 12 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO) https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO) MESH:C537195 MIM:605259 MONDO:0011529 NCI:C214865 ORDO:98768 KCNC3-related condition SCA13 autosomal dominant cerebellar ataxia with mental retardation spinocerebellar ataxia type 13 rgd_disease_ontology DOID:0050963 spinocerebellar ataxia 13 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO) https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO) MESH:C537196 MIM:605361 MONDO:0011540 NCI:C214866 ORDO:98763 PRKCG-related condition SCA14 spinocerebellar ataxia type 14 rgd_disease_ontology DOID:0050964 spinocerebellar ataxia 14 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO) https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO) DOID:0050966 ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA MESH:C564685 MIM:606658 MONDO:0011694 NCI:C150250 ORDO:98769 SCA15 SCA16 spinocerebellar ataxia 16 spinocerebellar ataxia type 15 spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 16 rgd_disease_ontology DOID:0050965 spinocerebellar ataxia 15 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO) https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 true An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO) DOID:9001531 DOID:9002725 GARD:10469 MESH:C563505 MESH:C564616 MESH:C565866 MIM:607136 MONDO:0011781 NCI:C179861 ORDO:98759 CPD, late-onset recessive type CPD2 HDL4 Huntington Disease-Like 4 Huntington's Disease-Like 4 OPCA with dementia and extrapyramidal signs OPCA5 SCA17 cerebelloparenchymal disorder II olivopontocerebellar atrophy V spinocerebellar ataxia type 17 rgd_disease_ontology DOID:0050967 spinocerebellar ataxia 17 An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO) https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17 An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO) MIM:604121 DNMT1-RELATED DISORDER GARD:12372 MESH:C565825 ORDO:314404 ADCADN cerebellar ataxia, deafness, and narcolepsy rgd_disease_ontology DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO) https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO) GARD:9976 MESH:C537197 MIM:607458 MONDO:0011834 ORDO:98771 SCA18 SMNA sensorimotor neuropathy with ataxia, autosomal dominant spinocerebellar ataxia type 18 rgd_disease_ontology DOID:0050969 spinocerebellar ataxia 18 An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO) https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18 An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO) KCND3-RELATED DISORDER GARD:12365 MESH:C537198 MESH:C542540 MIM:607346 MONDO:0011819 NCI:C163756 ORDO:98772 SCA19 SCA22 spinocerebellar ataxia 19 spinocerebellar ataxia 22 spinocerebellar ataxia type 19/22 rgd_disease_ontology DOID:0050970 spinocerebellar ataxia 19/22 An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO) https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO) GARD:9997 MESH:C537199 MIM:608687 MONDO:0012098 ORDO:101110 CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB SCA20 Spinocerebellar Ataxia With Dysphonia Spinocerebellar Ataxia With Spasmodic Cough spinocerebellar ataxia type 20 rgd_disease_ontology DOID:0050971 spinocerebellar ataxia 20 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO) https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO) GARD:9999 MESH:C537200 MIM:607454 MONDO:0011833 ORDO:98773 SCA21 TMEM240-RELATED CONDITION spinocerebellar ataxia type 21 rgd_disease_ontology DOID:0050972 spinocerebellar ataxia 21 An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO) https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21 An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO) MESH:C537201 MIM:610245 MONDO:0012449 ORDO:101108 PDYN-RELATED CONDITION SCA23 spinocerebellar ataxia type 23 rgd_disease_ontology DOID:0050973 spinocerebellar ataxia 23 An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO) https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO) GARD:9996 MESH:C537202 MIM:608703 MONDO:0012103 ORDO:101111 SCA25 spinocerebellar ataxia type 25 rgd_disease_ontology DOID:0050974 spinocerebellar ataxia 25 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO) https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO) EEF2-related condition GARD:9995 MESH:C537203 MIM:609306 MONDO:0012246 ORDO:101112 SCA26 spinocerebellar ataxia type 26 rgd_disease_ontology DOID:0050975 spinocerebellar ataxia 26 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO) https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26 An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO) DOID:0111794 DOID:9006316 FGF14-related condition SCA27 spinocerebellar ataxia 27 GARD:9603 MESH:C537204 MIM:193003 MONDO:0008654 ORDO:98764 NYS4 SCA27A autosomal dominant cerebellar ataxia, FGF14-related congenital nystagmus 4 congenital nystagmus 4, autosomal dominant spinocerebellar ataxia type 27 spinocerebellar ataxia type 27A vestibulocerebellar disorder with predominant ocular signs rgd_disease_ontology DOID:0050976 spinocerebellar ataxia 27A An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO) PMID:32162847 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO) MESH:C537205 MIM:610246 MONDO:0012450 ORDO:101109 SCA28 spinocerebellar ataxia type 28 rgd_disease_ontology DOID:0050977 spinocerebellar ataxia 28 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO) https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO) ITPR1-related syndromic and non-syndromic hereditary ataxia MESH:C537206 MIM:117360 MONDO:0007298 NCI:C214867 ORDO:208513 ACV CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT CNPCA SCA29 aplasia of cerebellar vermis cerebellar ataxia, early-onset, nonprogressive cerebellar vermis aplasia spinocerebellar ataxia 29, congenital nonprogressive spinocerebellar ataxia type 29 rgd_disease_ontology DOID:0050978 spinocerebellar ataxia 29 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO) https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO) GARD:4950 MESH:C575214 MIM:613371 MONDO:0013241 ORDO:211017 SCA30 spinocerebellar ataxia type 30 rgd_disease_ontology DOID:0050979 spinocerebellar ataxia 30 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO) MIM:613371 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO) BEAN1-related condition MESH:C566146 MIM:117210 MONDO:0007296 NCI:C176901 ORDO:217012 SCA31 spinocerebellar ataxia type 31 spinocerebellar ataxia, 16q22-linked rgd_disease_ontology DOID:0050980 spinocerebellar ataxia 31 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO) https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31 An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO) DOID:9005475 MESH:C535738 MIM:133190 MONDO:0007574 ORDO:1955 Giroux Barbeau syndrome erythrokeratodermia - ataxia erythrokeratodermia with ataxia spinocerebellar ataxia type 34 rgd_disease_ontology DOID:0050981 spinocerebellar ataxia 34 An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO) https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO) MIM:613908 MONDO:0013485 ORDO:276193 SCA35 TGM6-RELATED CONDITION spinocerebellar ataxia type 35 rgd_disease_ontology DOID:0050982 spinocerebellar ataxia 35 An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO) MIM:613908 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO) MIM:614153 MONDO:0013594 NCI:C148316 ORDO:276198 SCA36 spinocerebellar ataxia type 36 rgd_disease_ontology DOID:0050983 spinocerebellar ataxia 36 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO) https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO) rgd 2017-08-08T00:00:00Z DAB1-related condition MIM:615945 MONDO:0014410 ORDO:363710 SCA37 spinocerebellar ataxia type 37 rgd_disease_ontology DOID:0050984 spinocerebellar ataxia 37 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO) MIM:615945 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO) rgd 2017-04-19T00:00:00Z EFO:0009056 MIM:615957 MONDO:0014417 ORDO:423296 ELOVL5-RELATED CONDITION SCA38 spinocerebellar ataxia type 38 rgd_disease_ontology DOID:0050985 spinocerebellar ataxia 38 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO) MIM:615957 An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO) rgd 2017-04-19T00:00:00Z CCDC88C-RELATED CONDITION EFO:0009057 MIM:616053 MONDO:0014475 ORDO:423275 SCA40 spinocerebellar ataxia type 40 rgd_disease_ontology DOID:0050986 spinocerebellar ataxia 40 An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO) MIM:616053 An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO) rgd_disease_ontology DOID:0050987 hypomyelinating leukoencephalopathy An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO) PMID:22232354 An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO) GRID2-RELATED CONDITION rgd_disease_ontology DOID:0050988 GRID2-related spinocerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO) https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO) MIM:160120 MESH:C563278 NCI:C214852 ORDO:37612 AEM AEMK EA1 EAM episodic ataxia with myokymia hereditary paroxysmal ataxia with neuromyotonia myokymia with periodic ataxia ISAACS-MERTENS SYNDROME MYOKYMIA 1 WITH HYPOMAGNESEMIA MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA hereditary continuous muscle fiber activity myokymia with periodic ataxia 1 rgd_disease_ontology DOID:0050989 episodic ataxia type 1 An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO) MIM:160120 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO) MIM:108500 MESH:C535506 NCI:C202603 ORDO:97 APCA Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Ataxia, Familial Paroxysmal CAPA Cerebellar ataxia, paroxysmal, Acetazolamide-responsive Cerebellopathy, hereditary paroxysmal EA2 Episodic ataxia with nystagmus acetazolamide-responsive episodic ataxia syndrome nystagmus-associated episodic ataxia EPISODIC ATAXIA, TYPE 2, AND EPILEPSY rgd_disease_ontology DOID:0050990 episodic ataxia type 2 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO) MIM:108500 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO) MESH:C564697 MIM:606554 MONDO:0011682 ORDO:79135 EA3 episodic ataxia with vertigo and tinnitus rgd_disease_ontology DOID:0050991 episodic ataxia type 3 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO) MIM:606554 An episodic ataxia that is characterized by vertigo and diplopia. (DO) MIM:606552 MESH:C564698 ORDO:79136 Periodic Vestibulocerebellar Ataxia rgd_disease_ontology DOID:0050992 episodic ataxia type 4 An episodic ataxia that is characterized by vertigo and diplopia. (DO) MIM:606552 An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO) CACNB4-related condition MESH:C566601 MIM:613855 MONDO:0013464 ORDO:211067 EA5 rgd_disease_ontology DOID:0050993 episodic ataxia type 5 An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO) MIM:613855 An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO) MIM:612656 MESH:C567207 ORDO:209967 EA6 SLC1A3-RELATED CONDITION rgd_disease_ontology DOID:0050994 episodic ataxia type 6 An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO) MIM:612656 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO) MIM:611907 MESH:C567459 ORDO:209970 EA7 rgd_disease_ontology DOID:0050995 episodic ataxia type 7 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO) MIM:611907 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO) rgd 2017-10-23T00:00:00Z MIM:616055 MONDO:0014476 ORDO:401953 rgd_disease_ontology DOID:0050996 episodic ataxia type 8 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO) MIM:616055 A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO) GARD:1998 MESH:C535731 MIM:PS224050 MONDO:0009133 OMIA:001947 ORDO:1766 CAMRQ CAMRQ syndrome DES UTS Uner Tan syndrome autosomal recessive cerebellar ataxia with mental retardation autosomal recessive cerebellar hypoplasia with cerebral gyral simplification cerebellar ataxia and mental retardation with or without quadrupedal locomotion cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebellar ataxia, mental retardation, and disequilibrium syndrome cerebellar ataxia, mental retardation, and dysequilibrium syndrome cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion congenital cerebellar ataxia and mental retardation, autosomal recessive dysequilibrium syndrome nonprogressive cerebellar disorder with mental retardation rgd_disease_ontology disequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO) PMID:21885617 PMID:28013290 PMID:33981800 PMID:38109455 PMID:38581205 An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO) MIM:614756 MONDO:0013886 ORDO:314647 CAMTA1-related condition CANPMR CECBA CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY rgd_disease_ontology DOID:0050998 nonprogressive cerebellar ataxia with mental retardation An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO) MIM:614756 An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO) ANO10-related condition MIM:613728 MONDO:0013392 ORDO:284289 SCAR10 rgd_disease_ontology DOID:0050999 autosomal recessive spinocerebellar ataxia 10 An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO) MIM:613728 A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. (DO) mtutaj 2024-11-27T18:10:52Z rgd_disease_ontology DOID:0051000 autoinflammatory disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. (DO) https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/ A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. (DO) mtutaj 2024-12-19T09:44:15Z DOID:9002225 MIM:619789 MONDO:00030711 CDA type IIIb CDAN3B congenital dyserythropoietic anemia type IIIb, autosomal recessive rgd_disease_ontology DOID:0051001 congenital dyserythropoietic anemia type IIIb A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. (DO) PMID:36200420 A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO) mtutaj 2024-12-19T09:48:22Z MIM:620969 ORDO:727394 CDA, type IVb CDAN4B rgd_disease_ontology DOID:0051002 congenital dyserythropoietic anemia type IVb A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO) PMID:25724378 A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. (DO) mtutaj 2024-12-19T09:53:53Z G6PD-RELATED DISORDER MIM:300908 CNSHA1 congenital nonspherocytic hemolytic anemia-1 rgd_disease_ontology DOID:0051003 congenital nonspherocytic hemolytic anemia 1 A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. (DO) PMID:18177777 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. (DO) mtutaj 2024-12-19T10:01:12Z DOID:9005319 MESH:C567228 MIM:612631 MONDO:0012967 ORDO:86817 ADENYLATE KINASE DEFICIENCY CNSHA3 Hemolytic Anemia due to Adenylate Kinase Deficiency rgd_disease_ontology DOID:0051004 congenital nonspherocytic hemolytic anemia 3 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. (DO) PMID:10233365 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. (DO) mtutaj 2024-12-19T10:04:18Z DOID:9005912 MIM:613470 MONDO:0013275 CNSHA4 DISORDER OF GLYCOLYSIS GPI-RELATED CONDITION HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY rgd_disease_ontology DOID:0051005 congenital nonspherocytic hemolytic anemia 4 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. (DO) PMID:8218542 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. (DO) 2024-12-19T10:06:18Z DOID:9000780 DOID:9006276 MESH:C562995 MIM:235700 MONDO:0009340 ORDO:90031 CNSHA5 HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY Hexokinase Deficiency Hemolytic Anemia Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency rgd_disease_ontology DOID:0051006 congenital nonspherocytic hemolytic anemia 5 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. (DO) PMID:12393545 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. (DO) mtutaj 2024-12-19T10:08:01Z DOID:9004820 MESH:C564859 MIM:266120 MONDO:0009946 ORDO:35120 CNSHA8 HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY Hemolytic Anemia due to Pyrimidine 5-Prime Nucleotidase Deficiency Hemolytic Anemia due to UMPH1 Deficiency Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency NT5C3A-RELATED CONDITION P5N Deficiency UMPH1 deficiency hemolytic anemia due to P5N deficiency rgd_disease_ontology DOID:0051007 congenital nonspherocytic hemolytic anemia 8 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. (DO) PMID:11369620 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. (DO) mtutaj 2024-12-19T10:09:53Z DOID:9001937 MESH:C566314 MIM:301083 MONDO:0020458 ORDO:99138 CNSHA9 HAEADA Hemolytic Anemia due to Elevated Adenosine Deaminase Hemolytic Anemia due to Elevated Erythrocyte ADA rgd_disease_ontology DOID:0051008 congenital nonspherocytic hemolytic anemia 9 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. (DO) PMID:35030251 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. (DO) mtutaj 2024-12-19T10:11:33Z DOID:9007213 GSR-related condition MESH:C564218 MIM:618660 MONDO:0019531 ORDO:90030 CNSHA10 Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells Hemolytic Anemia due to Glutathione Reductase Deficiency rgd_disease_ontology DOID:0051009 congenital nonspherocytic hemolytic anemia 10 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. (DO) PMID:17185460 An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. (DO) mtutaj 2024-12-19T10:48:52Z DOID:9002771 MIM:PS619720 rgd_disease_ontology DOID:0051010 Bryant-Li-Bhoj neurodevelopmental syndrome An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. (DO) https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. (DO) mtutaj 2024-12-19T10:49:05Z DOID:9001391 H3-3A-RELATED CONDITION H3F3A-RELATED DISORDERS MIM:619720 BRYLIB1 rgd_disease_ontology DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. (DO) PMID:38678163 https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. (DO) mtutaj 2024-12-19T10:49:17Z DOID:9000402 H3-3B-RELATED CONDITION MIM:619721 BRYLIB2 rgd_disease_ontology DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. (DO) PMID:38678163 https://www.ncbi.nlm.nih.gov/books/NBK595206/ A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. (DO) mtutaj 2024-12-19T10:54:30Z DOID:9000882 GARD:10681 MESH:C548076 MIM:612462 MONDO:0012911 ORDO:79444 PHP IC PHP1C Pseudohypoparathyroidism Type IC rgd_disease_ontology DOID:0051013 pseudohypoparathyroidism type 1C A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. (DO) PMID:18372789 An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. (DO) mtutaj 2025-01-31T17:10:08Z DOID:9009281 MIM:621061 ADLDAT rgd_disease_ontology DOID:0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. (DO) PMID:39078102 A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. (DO) mtutaj 2025-01-31T17:13:16Z MIM:PS169500 ORDO:99027 autosomal dominant adult-onset demyelinating leukodystrophy autosomal dominant leukodystrophy with autonomic disease rgd_disease_ontology DOID:0051015 adult onset demyelinating leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. (DO) https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/ A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. (DO) mtutaj 2025-01-31T17:17:35Z DOID:9003587 visceral heterotaxia EFO:0009136 MESH:C538116 MIM:306955 MONDO:0010607 HTX1 Heterotaxy, Visceral, 1, X-Linked Heterotaxy, Visceral, X-Linked congenital heart defects, multiple types, 1, X-Linked dextrocardia with other cardiac malformations laterality, X-linked situs inversus, complex cardiac defects, and splenic defects, X-linked CHTD1 rgd_disease_ontology DOID:0051016 visceral heterotaxy 1 A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. (DO) PMID:18456715 A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. (DO) mtutaj 2025-01-31T17:21:45Z DOID:9002143 MIM:605376 MONDO:0011546 HTX2 Visceral Heterotaxy 2, Autosomal rgd_disease_ontology DOID:0051017 visceral heterotaxy 2 A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. (DO) PMID:11062482 A visceral heterotaxy that has been mapped to chromosome 6q21. (DO) mtutaj 2025-01-31T17:27:15Z DOID:9004505 MESH:C565237 MIM:606325 MONDO:0011659 HTX3 Visceral Heterotaxy 3, Autosomal rgd_disease_ontology DOID:0051018 visceral heterotaxy 3 A visceral heterotaxy that has been mapped to chromosome 6q21. (DO) PMID:11562933 A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. (DO) mtutaj 2025-01-31T17:27:26Z DOID:9008496 ACVR2B-related condition MIM:613751 MONDO:0013403 HTX4 Visceral Heterotaxy 4, Autosomal rgd_disease_ontology DOID:0051019 visceral heterotaxy 4 A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. (DO) PMID:9916847 A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. (DO) mtutaj 2025-01-31T17:27:45Z DOID:9003212 CFAP53-related condition MIM:614779 MONDO:0013887 HTX6 Visceral Heterotaxy 6, Autosomal rgd_disease_ontology DOID:0051020 visceral heterotaxy 6 A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. (DO) PMID:22577226 A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. (DO) mtutaj 2025-01-31T17:27:58Z DOID:9008364 MMP21-related condition MIM:616749 MONDO:0014762 HTX7 Visceral Heterotaxy 7, Autosomal rgd_disease_ontology DOID:0051021 visceral heterotaxy 7 A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. (DO) PMID:26437028 A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. (DO) mtutaj 2025-01-31T17:28:10Z DOID:9007421 PKD1L1-related condition MIM:617205 MONDO:0014967 HTX8 Visceral Heterotaxy 8, Autosomal rgd_disease_ontology DOID:0051022 visceral heterotaxy 8 A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. (DO) PMID:27616478 A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. (DO) mtutaj 2025-01-31T17:28:24Z DOID:9003544 MNS1-related condition MIM:618948 MONDO:0030070 HTX9 Visceral Heterotaxy 9, Autosomal autosomal visceral heterotaxy-9 with male infertility rgd_disease_ontology DOID:0051023 visceral heterotaxy 9 A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. (DO) PMID:31534215 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. (DO) mtutaj 2025-01-31T17:40:20Z DOID:9008028 CFAP52-related condition MIM:619607 MONDO:0030474 HTX10 Visceral Heterotaxy 10, Autosomal autosomal visceral heterotaxy 10 with male infertility rgd_disease_ontology DOID:0051024 visceral heterotaxy 10 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. (DO) PMID:33139725 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. (DO) mtutaj 2025-01-31T17:40:30Z DOID:9002158 MIM:619608 MONDO:0030475 HTX11 Visceral Heterotaxy 11, Autosomal autosomal visceral heterotaxy 11 with male infertility rgd_disease_ontology DOID:0051025 visceral heterotaxy 11 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. (DO) PMID:33139725 A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. (DO) mtutaj 2025-01-31T17:40:41Z DOID:9004727 CIROP-related condition MIM:619702 MONDO:0859222 HTX12 Visceral Heterotaxy 12, Autosomal rgd_disease_ontology DOID:0051026 visceral heterotaxy 12 A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. (DO) PMID:33139725 A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. (DO) mtutaj 2025-01-31T17:40:54Z DOID:9009284 MIM:621079 MONDO:0976134 HTX13 Visceral Heterotaxy 13, Autosomal rgd_disease_ontology DOID:0051027 visceral heterotaxy 13 A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. (DO) PMID:36316122 A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO) mtutaj 2025-01-31T17:46:41Z DOID:9003332 MESH:C539595 MIM:607706 MONDO:0011898 CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Charcot-Marie-Tooth Disease Type 4A, Axonal Form Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth with vocal cord paresis NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE rgd_disease_ontology DOID:0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO) PMID:15358725 A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. (DO) mtutaj 2025-01-31T17:48:57Z DOID:9009283 MIM:621071 MTDPS21 rgd_disease_ontology DOID:0051029 mitochondrial DNA depletion syndrome-21 A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. (DO) PMID:39230499 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO) mtutaj 2025-01-31T17:51:36Z DOID:9009282 MIM:621060 MONDO:0976126 NEDMISH rgd_disease_ontology DOID:0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. (DO) PMID:39306721 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. (DO) mtutaj 2025-01-31T17:54:19Z DOID:9009149 KIF14-related condition MIM:617914 MONDO:0054761 MCPH20 rgd_disease_ontology DOID:0051031 primary autosomal recessive microcephaly 20 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. (DO) PMID:29343805 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. (DO) mtutaj 2025-01-31T17:57:01Z DOID:9009171 NCAPD2-related condition MIM:617983 MONDO:0054804 MCPH21 rgd_disease_ontology DOID:0051032 primary autosomal recessive microcephaly 21 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. (DO) PMID:35568357 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. (DO) mtutaj 2025-01-31T17:57:13Z DOID:9009172 NCAPD3-related condition MIM:617984 MONDO:0054805 MCPH22 rgd_disease_ontology DOID:0051033 primary autosomal recessive microcephaly 22 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. (DO) PMID:27737959 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. (DO) mtutaj 2025-01-31T17:57:27Z DOID:9002582 NCAPH-related condition MIM:617985 MONDO:0054806 MCPH23 rgd_disease_ontology DOID:0051034 primary autosomal recessive microcephaly 23 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. (DO) PMID:27737959 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. (DO) mtutaj 2025-01-31T17:57:40Z DOID:9009243 NUP37-related condition MIM:618179 MCPH24 rgd_disease_ontology DOID:0051035 primary autosomal recessive microcephaly 24 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. (DO) PMID:30179222 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. (DO) mtutaj 2025-01-31T17:57:52Z DOID:9003084 TRAPPC14-related condition MIM:618351 MONDO:0032694 MCPH25 rgd_disease_ontology DOID:0051036 primary autosomal recessive microcephaly 25 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. (DO) PMID:30715179 A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. (DO) mtutaj 2025-01-31T17:58:03Z DOID:9006542 LMNB1-related condition MIM:619179 MONDO:0030928 LMNB1-RELATED PRIMARY MICROCEPHALY MCPH26 MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT primary autosomal dominant microcephaly 26 rgd_disease_ontology DOID:0051037 autosomal dominant primary microcephaly 26 A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. (DO) PMID:32910914 A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. (DO) mtutaj 2025-01-31T17:58:15Z DOID:9002951 MIM:619180 MONDO:0030929 MCPH27 rgd_disease_ontology DOID:0051038 autosomal dominant primary microcephaly 27 A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. (DO) PMID:33033404 A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. (DO) mtutaj 2025-01-31T18:19:53Z DOID:9007625 MIM:619453 MCPH28 rgd_disease_ontology DOID:0051039 primary autosomal recessive microcephaly 28 A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. (DO) PMID:33199730 A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. (DO) mtutaj 2025-01-31T18:20:11Z DOID:9003562 MIM:620047 MCPH29 rgd_disease_ontology DOID:0051040 primary autosomal recessive microcephaly 29 A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. (DO) PMID:32286682 A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. (DO) mtutaj 2025-01-31T18:20:23Z DOID:9001690 BUB1-RELATED CONDITION MIM:620183 MONDO:0859342 MCPH30 rgd_disease_ontology DOID:0051041 primary autosomal recessive microcephaly 30 A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. (DO) PMID:35044816 An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO) mtutaj 2025-03-03T16:31:43Z DOID:9009289 MIM:621094 HMND15 NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15 rgd_disease_ontology DOID:0051042 autosomal dominant distal hereditary motor neuronopathy 15 An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO) PMID:37907725 A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO) mtutaj 2025-03-03T16:34:02Z DOID:9009288 MIM:621095 CMT2JJ Charcot-Marie-Tooth neuropathy, type 2JJ rgd_disease_ontology DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO) PMID:31853710 A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (DO) mtutaj 2025-03-03T16:36:06Z DOID:9003320 MIM:619424 MONDO:0859168 MFM12 Myofibrillar Myopathy 12 rgd_disease_ontology DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (DO) PMID:23365102 A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. (DO) mtutaj 2025-03-03T16:40:46Z DOID:9009287 MIM:621078 MONDO:0976133 ORDO:476093 MFM13 myofibrillar myopathy 13 rimmed vacuolar myopathy rgd_disease_ontology DOID:0051045 myofibrillar myopathy 13 with rimmed vacuoles A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. (DO) PMID:31403083 A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. (DO) mtutaj 2025-03-03T16:42:45Z DOID:9009290 MIM:621099 SEMDLSL rgd_disease_ontology DOID:0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. (DO) PMID:39414788 A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. (DO) mtutaj 2025-03-03T16:44:10Z DOID:9006729 MIM:620546 MONDO:0957820 CDG IIbb CDG2BB CDGIIBB rgd_disease_ontology DOID:0051047 congenital disorder of glycosylation type IIbb A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. (DO) PMID:37711075 A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. (DO) mtutaj 2025-03-03T16:46:12Z DOID:9000744 MIM:301045 MONDO:0026765 CDG IIr CDG2R CDGIIR rgd_disease_ontology DOID:0051048 congenital disorder of glycosylation type IIr A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. (DO) PMID:29127204 A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. (DO) mtutaj 2025-03-03T16:48:15Z DOID:9000346 GALNT2-related condition MIM:618885 MONDO:0030043 CDG IIt CDG2T CDGIIt rgd_disease_ontology DOID:0051049 congenital disorder of glycosylation type IIt A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. (DO) PMID:32293671 A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (DO) mtutaj 2025-03-03T16:50:01Z DOID:9005531 MIM:619493 MONDO:0030423 ORDO:695783 CDG2V EDEM3-RELATED DISORDER congenital disorder of glycosylation, type 2V rgd_disease_ontology DOID:0051050 congenital disorder of glycosylation type IIv A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (DO) PMID:34143952 A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO) mtutaj 2025-03-03T16:51:59Z DOID:9002132 MIM:619525 MONDO:0030437 CDG2W rgd_disease_ontology DOID:0051051 congenital disorder of glycosylation type IIw A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO) PMID:33964207 A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. (DO) mtutaj 2025-03-03T16:54:03Z DOID:9007056 MIM:620200 MONDO:0859356 CDG IIy CDG2Y CDGIIY rgd_disease_ontology DOID:0051052 congenital disorder of glycosylation type IIy A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. (DO) PMID:32395830 A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. (DO) mtutaj 2025-03-03T16:55:37Z DOID:9004511 MIM:620201 MONDO:0859357 CDG IIz CDG2Z CDGIIZ rgd_disease_ontology DOID:0051053 congenital disorder of glycosylation type IIz A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. (DO) PMID:35262690 A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. (DO) mtutaj 2025-08-04T09:25:24Z DOID:9007908 EFO:1001267 MESH:D001017 MIM:120000 MONDO:0007345 NCI:C84567 ORDO:1457 Aorta Coarctation Aorta Dominant Coarctation Aortic Coarctation Aortic Coarctations Coarctation of Aorta Coarctation of Aorta Dominant Coarctation of the Aorta rgd_disease_ontology MIDAORTIC SYNDROME DOID:0051054 coarctation of the aorta A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. (DO) PMID:38416090 https://medlineplus.gov/ency/article/000191.htm https://www.annalsthoracicsurgery.org/article/S0003-4975(24)00077-8/fulltext https://www.mayoclinic.org/diseases-conditions/coarctation-of-the-aorta/symptoms-causes/syc-20352529 https://www.ncbi.nlm.nih.gov/books/NBK430913/ https://www.nyp.org/pediatrics/heart/coarctation-of-aorta A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). (DO) mtutaj 2025-03-03T16:57:09Z DOID:9006824 DHH-RELATED DISORDER MESH:C567773 MIM:607080 MONDO:0011766 ORDO:168563 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy GDMN rgd_disease_ontology DOID:0051055 46,XY gonadal dysgenesis with minifascicular neuropathy A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). (DO) PMID:10483790 A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. (DO) mtutaj 2025-08-31T18:01:22Z MIM:620565 IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION rgd_disease_ontology DOID:0051056 immunodeficiency 113 A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. (DO) PMID:37349293 An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. (DO) mtutaj 2025-08-31T18:03:17Z ARFID rgd_disease_ontology DOID:0051057 avoidant/restrictive food intake disorder An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. (DO) PMID:40568462 PMID:40690322 PMID:40791012 https://acamh.onlinelibrary.wiley.com/doi/10.1111/jcpp.70029 A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. (DO) mtutaj 2025-09-30T13:54:43Z rgd_disease_ontology DOID:0051058 acute calcific periarthritis A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. (DO) https://radiopaedia.org/articles/acute-calcific-periarthritis?lang=us A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. (DO) mtutaj 2025-11-03T07:47:12Z DOID:9004035 MESH:C537537 MIM:605407 MONDO:0011551 NCI:C157158 ORDO:101150 Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive Segawa Syndrome, Autosomal Recessive TH-deficient DRD TH-deficient dopa-responsive dystonia autosomal recessive DOPA-responsive dystonia infantile parkinsonism, autosomal recessive tyrosine hydroxylase deficiency rgd_disease_ontology DOID:0051059 autosomal recessive Segawa syndrome A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. (DO) PMID:22815559 PMID:36568392 A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. (DO) mtutaj 2025-11-03T07:51:02Z MIM:600274 FTD1 rgd_disease_ontology DOID:0051060 frontotemporal dementia 1 A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. (DO) https://www.ncbi.nlm.nih.gov/books/NBK1505/ A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. (DO) mtutaj 2025-11-25T16:27:46Z DOID:9007096 EFO:0000712 EFO:0009956 EFO:1001504 MESH:D020521 MIM:606799 Acute Cerebrovascular Accident Acute Stroke Acute Strokes Apoplexy Brain Vascular Accident Brain Vascular Accidents CVA Cerebral Stroke Cerebral Strokes Cerebrovascular Accidents Cerebrovascular Apoplexy Cerebrovascular Stroke STRK1 acute cerebrovascular accidents cerebrovascular accident cerebrovascular strokes strokes post-operative stroke small vessel stroke rgd_disease_ontology stroke, susceptibility to, 1 DOID:0051061 stroke A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. (DO) https://medlineplus.gov/stroke.html https://www.nhlbi.nih.gov/health/stroke A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. (DO) mtutaj 2025-11-25T16:31:33Z rgd_disease_ontology DOID:0051062 ischemic stroke A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. (DO) https://www.nhlbi.nih.gov/health/stroke A stroke that is characterized by sudden bleeding in the brain. (DO) mtutaj 2025-11-25T16:33:13Z DOID:9000627 EFO:0020921 hemorrhagic cerebrovascular accident rgd_disease_ontology DOID:0051063 hemorrhagic stroke A stroke that is characterized by sudden bleeding in the brain. (DO) https://www.nhlbi.nih.gov/health/stroke A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. (DO) mtutaj 2025-11-25T16:34:55Z DOID:9001747 MESH:D018487 left heart failure left ventricular dysfunction left ventricular dysfunctions rgd_disease_ontology DOID:0051064 left ventricular failure A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. (DO) https://www.ncbi.nlm.nih.gov/books/NBK537098/ A pancreatitis that is characterized by long-term inflamation of the pancreas. (DO) mtutaj 2025-11-25T16:39:56Z DOID:9006190 EFO:0000342 MESH:D050500 MONDO:0005003 NCI:C84637 rgd_disease_ontology chronic pancreatitis, susceptibility to DOID:0051065 chronic pancreatitis A pancreatitis that is characterized by long-term inflamation of the pancreas. (DO) https://medlineplus.gov/ency/article/000221.htm https://www.ncbi.nlm.nih.gov/books/NBK482325/ A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. (DO) mtutaj 2025-11-25T16:42:26Z rgd_disease_ontology DOID:0051066 arterionephrosclerosis A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. (DO) https://pmc.ncbi.nlm.nih.gov/articles/PMC5012291 https://www.pathologyoutlines.com/topic/kidneyarterionephrosclerosis.html A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36. (DO) mtutaj 2026-04-01T22:42:57Z DOID:9000279 DOID:9001096 SLC25A24-related condition MESH:C537290 MESH:C567360 MIM:612289 MONDO:0012853 ORDO:2095 ORDO:2963 ORDO:697101 CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE Congenital Progeroid Syndrome, Petty Type Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies FPS Fontaine Progeroid Syndrome GCM syndrome Gorlin-Chaudhry-Moss syndrome rgd_disease_ontology DOID:0051067 Fontaine progeroid syndrome A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36. (DO) PMID:35679445 https://www.ncbi.nlm.nih.gov/books/NBK581082/ A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23. (DO) mtutaj 2026-04-02T13:44:19Z DOID:9005103 GARD:10823 MESH:C565726 MIM:609734 MONDO:0012335 ORDO:71526 OBAIRH OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR POMC deficiency POMC-RELATED CONDITION pro-opiomelanocortin deficiency proopiomelanocortin deficiency proopiomelanocortin deficiency syndrome rgd_disease_ontology DOID:0051068 early-onset obesity, adrenal insufficiency, and red hair A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23. (DO) PMID:27468060 https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/ A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21. (DO) mtutaj 2026-04-02T13:48:47Z DOID:9009432 MIM:621512 MONDO:0980992 MGORS9 rgd_disease_ontology DOID:0051069 Meier-Gorlin syndrome 9 A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21. (DO) PMID:35603789 A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. (DO) mtutaj 2026-04-02T13:50:57Z MIM:621528 rgd_disease_ontology DOID:0051070 Meier-Gorlin syndrome 10 A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. (DO) PMID:31784481 An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23. (DO) mtutaj 2026-04-02T13:52:54Z MIM:621533 rgd_disease_ontology DOID:0051071 neurodevelopmental disorder with seizures and impaired intellectual and language development An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23. (DO) PMID:41643666 An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene. (DO) mtutaj 2026-04-02T13:54:14Z MIM:621525 NDCCA rgd_disease_ontology DOID:0051072 neurodegenerative disorder with cerebellar and caudate atrophy An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene. (DO) PMID:41349538 A dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that has_material_basis_in mutation in the gene encoding emerin (EMD) on chromosome Xq28. (DO) mtutaj 2026-04-02T13:56:08Z DOID:9009433 MIM:301163 MONDO:0981022 CMD3C rgd_disease_ontology DOID:0051073 dilated cardiomyopathy 3C A dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that has_material_basis_in mutation in the gene encoding emerin (EMD) on chromosome Xq28. (DO) PMID:40065010 A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14. (DO) mtutaj 2026-04-02T13:58:47Z DOID:9009431 MIM:621507 MCPH31 rgd_disease_ontology DOID:0051074 primary autosomal recessive microcephaly 31 A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14. (DO) PMID:40210435 An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25. (DO) mtutaj 2026-04-02T14:00:24Z DOID:9002306 MESH:C566946 MIM:608526 MONDO:0012051 PDON2 rgd_disease_ontology DOID:0051075 aggressive periodontitis 2 An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25. (DO) PMID:14673644 An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21. (DO) mtutaj 2026-04-02T14:02:21Z MIM:621506 NEDPAM rgd_disease_ontology DOID:0051076 neurodevelopmental disorder with parkinsonism or other movement abnormalities An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21. (DO) PMID:41053928 https://www.ncbi.nlm.nih.gov/books/NBK584989/ A reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or grandchildren of women exposed to diethylstilbestrol (DES) during pregnancy. (DO) mtutaj 2026-04-02T14:03:50Z ICD10CM:Q86.8 ICD11:LB44.6 NCI:C113422 ORDO:1916 DES syndrome rgd_disease_ontology DOID:0051077 diethylstilbestrol syndrome A reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or grandchildren of women exposed to diethylstilbestrol (DES) during pregnancy. (DO) https://rarediseases.org/mondo-disease/diethylstilbestrol-syndrome/ https://www.cancer.gov/about-cancer/causes-prevention/risk/hormones/des-fact-sheet#what-is-des A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. (DO) do 2026-04-30T16:55:47Z DOID:9008581 MIM:618270 MONDO:0032646 CAKUT3 NRIP1-related condition congenital anomalies of kidney and urinary tract 3 rgd_disease_ontology DOID:0051078 congenital anomalies of the kidney and urinary tract 3 A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. (DO) PMID:28381549 An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. (DO) do 2026-04-30T16:59:54Z MIM:620536 MONDO:0957811 ATS3B Alport syndrome 3B, autosomal recessive rgd_disease_ontology DOID:0051080 Alport syndrome 3B An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. (DO) PMID:9792860 An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. (DO) do 2026-04-30T17:07:10Z DOID:9009236 MIM:620903 MONDO:0971178 PKD8 rgd_disease_ontology DOID:0051081 polycystic kidney disease 8 An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. (DO) PMID:37598857 A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. (DO) do 2026-04-30T17:09:50Z rgd_disease_ontology DOID:0051082 Parkinson's disease 27 A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. (DO) https://pmc.ncbi.nlm.nih.gov/articles/PMC11241486/ A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO) do 2026-06-01T09:03:31Z DOID:9004554 DEPDC5-related condition MIM:620504 MONDO:0957780 DEE111 rgd_disease_ontology DOID:0051083 developmental and epileptic encephalopathy 111 A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO) PMID:36067010 A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. (DO) mtutaj 2026-06-01T09:06:05Z DOID:9002059 MIM:620537 MONDO:0957812 DEE112 KCNH5-related disorder rgd_disease_ontology DOID:0051084 developmental and epileptic encephalopathy 112 A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. (DO) PMID:36307226 A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. (DO) tutajm 2026-06-01T09:32:51Z DOID:9003922 MIM:620772 MONDO:0958330 DEE113 rgd_disease_ontology DOID:0051085 developmental and epileptic encephalopathy 113 A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. (DO) PMID:37985816 A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. (DO) slaulederkind 2026-06-01T09:33:57Z DOID:9007514 MIM:620774 MONDO:0958331 DEE114 rgd_disease_ontology DOID:0051086 developmental and epileptic encephalopathy 114 A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. (DO) PMID:36073542 A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. (DO) slaulederkind 2026-06-01T09:35:03Z DOID:9005995 SNF8-associated disease MIM:620783 MONDO:0968946 DEE115 rgd_disease_ontology DOID:0051087 developmental and epileptic encephalopathy 115 A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. (DO) PMID:38423010 A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. (DO) tutajm 2026-06-01T09:36:21Z DOID:9009374 MIM:621304 MONDO:1060177 DEE119 RNU2-2 RELATED DISORDER rgd_disease_ontology DOID:0051088 developmental and epileptic encephalopathy 119 A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. (DO) PMID:40442284 A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. (DO) tutajm 2026-06-01T09:37:57Z DOID:9009412 MIM:621468 MONDO:0980948 DEE120 rgd_disease_ontology DOID:0051089 developmental and epileptic encephalopathy 120 A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. (DO) PMID:41133935 A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. (DO) tutajm 2026-06-01T09:39:28Z DOID:9009415 MIM:621475 MONDO:0980966 DEE121 rgd_disease_ontology DOID:0051090 developmental and epileptic encephalopathy 121 A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. (DO) PMID:40455867 A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. (DO) do 2026-06-01T09:41:03Z MIM:621608 DEE122 rgd_disease_ontology DOID:0051091 developmental and epileptic encephalopathy 122 A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. (DO) PMID:41570816 An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. (DO) do 2026-07-01T08:36:07Z MIM:621591 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, ABSENT LANGUAGE, AND BEHAVIORAL ABNORMALITIES rgd_disease_ontology DOID:0051092 Damseh-Danson neurodevelopmental disorder An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. (DO) PMID:41609011 A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. (DO) do 2026-07-01T08:41:03Z MIM:621560 rgd_disease_ontology DOID:0051093 retinitis pigmentosa 102 A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. (DO) PMID:41513982 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-1 gene on chromosome 15q23. (DO) do 2026-07-01T08:42:36Z MIM:621561 rgd_disease_ontology DOID:0051094 retinitis pigmentosa 103 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-1 gene on chromosome 15q23. (DO) PMID:41513982 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. (DO) do 2026-07-01T08:48:19Z MIM:621562 rgd_disease_ontology DOID:0051095 retinitis pigmentosa 104 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. (DO) PMID:41513982 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-8 gene on chromosome 14q12. (DO) do 2026-07-01T08:49:42Z MIM:621563 rgd_disease_ontology DOID:0051096 retinitis pigmentosa 105 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-8 gene on chromosome 14q12. (DO) PMID:41513982 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-9 gene on chromosome 19p13. (DO) do 2026-07-01T08:52:39Z MIM:621564 rgd_disease_ontology DOID:0051097 retinitis pigmentosa 106 A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-9 gene on chromosome 19p13. (DO) PMID:41513982 A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21. (DO) do 2026-07-01T08:55:57Z MIM:621587 rgd_disease_ontology DOID:0051098 retinitis pigmentosa 107 A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21. (DO) PMID:35246562 PMID:36329026 A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. (DO) do 2026-07-01T08:57:38Z MIM:621600 PAGET DISEASE OF BONE 7, EARLY-ONSET Paget's disease of bone 7 rgd_disease_ontology DOID:0051099 Paget disease of bone 7 A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. (DO) PMID:33599011 An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13. (DO) 2026-08-03T08:32:46Z DOID:9008769 MESH:C562669 MIM:237000 MONDO:0009374 4-Hydroxy-L-Proline Oxidase Deficiency rgd_disease_ontology DOID:0051100 hydroxyprolinemia An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13. (DO) PMID:27139199 https://lhncbc.nlm.nih.gov/newbornscreeningcodes/nb/sc/condition/OH-PRO.html A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. (DO) do 2026-08-03T08:34:58Z MIM:621637 RP108 rgd_disease_ontology DOID:0051101 retinitis pigmentosa 108 A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. (DO) PMID:41742423 A dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. (DO) do 2026-08-03T08:37:03Z GARD:484 MONDO:0008715 rgd_disease_ontology DOID:0051102 acrofrontofacionasal dysostosis A dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. (DO) https://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis An acrofrontofacionasal dysostosis with genitourinary anomalies. (DO) 2026-08-03T08:40:27Z DOID:9007593 GARD:287 MESH:C538332 MIM:239710 MONDO:0009402 ORDO:2211 Acrofrontofacionasal Dysostosis with Genitourinary Anomalies Hypertelorism, Hypospadias, and Polysyndactyly Syndrome Naguib syndrome Naguib-Richieri-Costa syndrome acrofrontofacionasal dysostosis, severe hypertelorism-hypospadias-polysyndactyly syndrome rgd_disease_ontology DOID:0051103 acrofrontofacionasal dysostosis 2 An acrofrontofacionasal dysostosis with genitourinary anomalies. (DO) PMID:18553510 An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. (DO) do 2026-08-03T08:43:35Z MIM:621629 AFFND3 rgd_disease_ontology DOID:0051104 acrofrontofacionasal dysostosis 3 An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. (DO) PMID:29929043 An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO) rgd 2017-10-27T00:00:00Z GARD:6337 infective endocarditides rgd_disease_ontology DOID:0060000 infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO) http://en.wikipedia.org/wiki/Endocarditis http://en.wikipedia.org/wiki/Infective_endocarditis A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO) EFO:0004777 EFO:0005800 MESH:D013375 Drug Withdrawal Symptom Substance Withdrawal Syndrome Substance Withdrawal Syndromes Withdrawal Symptom drug withdrawal symptoms withdrawal symptoms alcohol withdrawal rgd_disease_ontology DOID:0060001 withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO) http://en.wikipedia.org/wiki/Withdrawal A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO) rgd 2017-10-20T00:00:00Z C1 esterase inhibitor deficiency Quincke edema deficiency of C1 esterase inhibitor rgd_disease_ontology DOID:0060002 C1 inhibitor deficiency A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO) http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease An autoimmune hypersensitivity disease located_in the central nervous system. (DO) rgd 2017-10-18T00:00:00Z rgd_disease_ontology DOID:0060004 autoimmune disease of central nervous system An autoimmune hypersensitivity disease located_in the central nervous system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060005 autoimmune disease of endocrine system An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ true A severe combined immunodeficiency that affects the development and function of T cells. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060007 CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells. (DO) PMID:16264327 A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO) rgd 2017-10-19T00:00:00Z EFO:0005565 RDO:9002904 rgd_disease_ontology DOID:0060008 janus kinase-3 deficiency A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO) https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO) MESH:C565759 NCI:C171267 ORDO:34592 BARE LYMPHOCYTE SYNDROME TYPE 1 BLS, Type I BLSI Bare Lymphocyte Syndrome, Type I HLA Class I Deficiency rgd_disease_ontology DOID:0060009 MHC class I deficiency A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO) PMID:25001848 https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO) MIM:603554 GARD:8198 ICD10CM:D81.8 MESH:C538564 NCI:C61240 Omenn's syndrome Omenns syndrome combined immunodeficiency with hypereosinophilia familial reticuloendotheliosis, with eosinophilia severe combined immunodeficiency with hypereosinophilia rgd_disease_ontology DOID:0060010 Omenn syndrome A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO) PMID:11213808 PMID:14328107 https://en.wikipedia.org/wiki/Omenn_syndrome A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO) rgd 2017-10-19T00:00:00Z MONDO:0000572 rgd_disease_ontology DOID:0060011 recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO) http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO) rgd 2017-10-19T00:00:00Z EFO:0009651 MONDO:0000573 RAG2 deficiency rgd_disease_ontology DOID:0060012 recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO) http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO) rgd 2017-10-30T00:00:00Z EFO:0005555 EFO:1001451 GARD:5618 MIM:300400 NCI:C4682 ORDO:276 IMD4 Immunodeficiency 4 SCID-X1 SCIDX SCIDX1 X-SCID X-linked SCID X-linked severe combined immunodeficiency disease X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative XSCID gamma chain deficiency thymic epithelial hypoplasia rgd_disease_ontology DOID:0060013 X-linked severe combined immunodeficiency A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO) http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060014 CD45 deficiency A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO) PMID:29366662 true A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO) rgd 2017-10-19T00:00:00Z CD3D rgd_disease_ontology DOID:0060016 CD3delta deficiency A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO) PMID:15640687 A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060017 CD3epsilon deficiency A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO) PMID:16264327 A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060018 CD3gamma deficiency A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO) PMID:16264327 A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO) rgd 2017-10-19T00:00:00Z MIM:615401 ORDO:228003 CORO1A-RELATED CONDITION IMD8 SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY immunodeficiency 8 immunodeficiency-8 with lymphoproliferation rgd_disease_ontology T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS DOID:0060019 coronin-1A deficiency A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO) http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO) GARD:8625 MESH:C538361 MIM:242880 MIM:267500 MONDO:0009973 NCI:C27070 ORDO:33355 De Vaal disease DeVaal disease Hematopoietic Hypoplasia, Generalized aleukocytosis congenital aleukia immunoerythromyeloid hypoplasia reticular dysgenesia severe combined immunodeficiency with leukopenia rgd_disease_ontology DOID:0060020 reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO) http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum http://www.ncbi.nlm.nih.gov/gene/204? A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO) MIM:606593 MESH:C564694 NCI:C122657 ORDO:99812 DNA Ligase IV Syndrome LIG4 Syndrome LIG4-related disorder LIG4-related disorders PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS rgd_disease_ontology DOID:0060021 DNA ligase IV deficiency A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO) MIM:606593 http://www.ncbi.nlm.nih.gov/gene/3981 A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO) MESH:D053307 MIM:308230 ORDO:101088 HIGM1 HIGM1 syndrome HIGM1 syndromes HIGMX-1 Hyper IgM Syndrome 1 IHIS IMD3 IMMUNODEFICIENCY 3 IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM Immunodeficiency with Hyper IgM, Type 1 X-linked hyper-IgM immunodeficiencies X-linked hyper-IgM immunodeficiency X-linked hyper-IgM syndrome X-linked hyper-immunoglobulin M (IgM) syndrome XHIGM XHIM hyper-IgM immunodeficiency syndrome, type 1 rgd_disease_ontology DOID:0060022 CD40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO) PMID:30681380 A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO) rgd 2017-10-30T00:00:00Z GARD:10579 MIM:606843 MONDO:0011735 NCI:C176416 ORDO:101090 CD40 deficiency CD40-RELATED CONDITION HIGM3 HIGM3 syndrome HYPER-IGM SYNDROME TYPE 3 Hyper IgM Immunodeficiency Syndrome Type 3 hyper IgM syndrome 3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency rgd_disease_ontology DOID:0060023 immunodeficiency with hyper IgM type 3 A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO) PMID:11675497 A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO) rgd 2017-10-30T00:00:00Z rgd_disease_ontology DOID:0060024 lambda 5 deficiency A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO) http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 http://www.ncbi.nlm.nih.gov/gene/3543? A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO) GARD:10197 MESH:D017098 ORDO:69127 IgA deficiencies IgA deficiency gamma-A-globulin deficiency rgd_disease_ontology DOID:0060025 immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO) http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 http://www.ncbi.nlm.nih.gov/gene/973? A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO) MESH:C567200 MONDO:0000583 CD79B deficiency IgB deficiency immunodeficiency, hypogammaglobulinemia, and reduced B cells rgd_disease_ontology DOID:0060026 immunoglobulin beta deficiency A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO) https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO) MIM:613502 MONDO:0013289 AGM4 B cell linker protein deficiency BLNK deficiency autosomal recessive agammaglobulinemia 4 autosomal recessive agammaglobulinemia due to BLNK defect rgd_disease_ontology DOID:0060027 agammaglobulinemia 4 An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO) PMID:10583958 A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO) rgd 2017-10-11T00:00:00Z thymoma with hypogammaglobulinemia rgd_disease_ontology DOID:0060028 Good syndrome A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO) http://en.wikipedia.org/wiki/Good_syndrome https://www.ncbi.nlm.nih.gov/articles/PMC3102047/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060029 autoimmune disease of exocrine system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060030 autoimmune disease of eyes, ear, nose and throat An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO) rgd 2017-10-26T00:00:00Z IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY rgd_disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO) rgd 2017-10-20T00:00:00Z rgd_disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO) rgd 2017-10-18T00:00:00Z MONDO:0000590 rgd_disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO) mtutaj 2022-11-30T18:56:52Z DOID:9009019 EFO:1001987 MONDO:0858910 floppy head syndrome rgd_disease_ontology DOID:0060034 dropped head syndrome A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO) PMID:23203936 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO) rgd 2017-09-01T00:00:00Z MONDO:0000591 rgd_disease_ontology DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO) https://en.wikipedia.org/wiki/Cardiomyopathy A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO) rgd 2017-10-23T00:00:00Z EFO:0005548 MONDO:0005503 rgd_disease_ontology DOID:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO) http://en.wikipedia.org/wiki/Developmental_disorders A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO) rgd_disease_ontology DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO) http://en.wikipedia.org/wiki/Specific_developmental_disorder An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO) rgd 2017-10-23T00:00:00Z DOID:9000537 ICD9CM:299.80 MESH:D002659 NCI:C97179 ORDO:168778 pervasive child development disorders pervasive development disorder pervasive development disorders rgd_disease_ontology DOID:0060040 pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO) https://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO) EFO:0003756 GARD:10248 MESH:D000067877 NCI:C88412 ASD Autism Spectrum Disorders Autistic spectrum disorder with isolated skills NRXN2-RELATED AUTISM SPECTRUM DISORDER familial autism spectrum disorder rgd_disease_ontology AUTISM, SUSCEPTIBLITY TO DOID:0060041 autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO) http://en.wikipedia.org/wiki/Autism_spectrum_disorder http://www.neurodevnet.ca https://www.genome.gov/Genetic-Disorders/Autism An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO) rgd 2017-10-23T00:00:00Z EFO:0003759 MONDO:0016052 ORDO:199627 PDD pervasive developmental disorder rgd_disease_ontology DOID:0060042 atypical autism An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO) http://counsellingresource.com/distress/autistic/autism-atypical.html https://kidsbrainhealth.ca https://www.thehealthboard.com/what-is-atypical-autism.htm A disease of mental health that involves the impairment in normal sexual functioning. (DO) MESH:D020018 Frigidity Orgasmic Disorder Sexual Arousal Disorder Sexual Arousal Disorders Sexual Aversion Disorder orgasmic disorders sexual aversion disorders sexual disorder rgd_disease_ontology DOID:0060043 sexual health disorder A disease of mental health that involves the impairment in normal sexual functioning. (DO) https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO) MESH:D010262 Paraphilia Paraphilic Disorder Paraphilic Disorders Sex Deviation paraphilias sex deviations rgd_disease_ontology DOID:0060044 paraphilia disorder A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO) https://en.wikipedia.org/wiki/Paraphilia A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO) MESH:D016735 Munchausen syndrome by proxy rgd_disease_ontology DOID:0060045 Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO) http://en.wikipedia.org/wiki/Munchausen_by_proxy A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO) MESH:D001037 MONDO:0000598 Acquired Aphasia Ageusic Aphasia Alogia Anepia Auditory Discriminatory Aphasia Commisural Aphasia Dejerine Lichtheim Phenomenon Dysphasia Functional Aphasia Functional Aphasias Global Aphasia Global Aphasias Global Dysphasia Global Dysphasias Graphomotor Aphasia Graphomotor Aphasias Intellectual Aphasia Intellectual Aphasias Lichtheim Sign Lichtheim's Sign Lichtheims Sign Logagnosia Logagnosias Logamnesia Logamnesias Logasthenia Logasthenias Mixed Aphasia Mixed Aphasias Post-Ictal Aphasia Post-Ictal Aphasias Post-Traumatic Aphasia Post-Traumatic Aphasias Progressive Aphasia ageusic aphasias alogias anepias auditory discriminatory aphasias commisural aphasias progressive aphasias semantic aphasia semantic aphasias syntactical aphasia syntactical aphasias rgd_disease_ontology DOID:0060046 aphasia A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO) http://en.wikipedia.org/wiki/Aphasia A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060047 writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO) http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities A specific phobia that involves an irrational fear of contracting a disease. (DO) EFO:1001903 rgd_disease_ontology DOID:0060048 nosophobia A specific phobia that involves an irrational fear of contracting a disease. (DO) http://en.wikipedia.org/wiki/Nosophobia An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO) rgd 2017-10-26T00:00:00Z rgd_disease_ontology DOID:0060049 autoimmune disease of urogenital tract An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO) rgd 2017-10-26T00:00:00Z MONDO:0000602 rgd_disease_ontology DOID:0060050 autoimmune disease of blood An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO) rgd 2017-10-19T00:00:00Z MONDO:0000603 autoimmune disorder of cardiovascular system rgd_disease_ontology DOID:0060051 autoimmune disease of cardiovascular system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK459447/ A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO) rgd 2017-10-18T00:00:00Z rgd_disease_ontology DOID:0060054 autonomic peripheral neuropathy A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO) https://en.wikipedia.org/wiki/Autonomic_neuropathy A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO) GARD:3242 MESH:C562509 MIM:119500 MONDO:0017435 NCI:C118786 ORDO:1300 ORDO:294963 PPS cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies facio-genito-popliteal syndrome faciogenitopopliteal syndrome popliteal web syndrome rgd_disease_ontology DOID:0060055 popliteal pterygium syndrome A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO) PMID:2352260 PMID:4384166 http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome An immune system disease that has_material_basis_in abnormal immune responses. (DO) rgd 2017-10-23T00:00:00Z EFO:1002003 rgd_disease_ontology DOID:0060056 hypersensitivity reaction disease An immune system disease that has_material_basis_in abnormal immune responses. (DO) http://en.wikipedia.org/wiki/Hypersensitivity http://www.ncbi.nlm.nih.gov/books/NBK27136/ A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO) rgd 2017-10-24T00:00:00Z allergy to gluten gluten allergic reaction rgd_disease_ontology DOID:0060057 gluten allergy A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO) https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO) EFO:0000574 ICD10CM:C85.9 ICDO:9590/3 MESH:D008223 MONDO:0005062 NCI:C128121 NCI:C134786 NCI:C21602 NCI:C3208 NCI:C60448 NCI:C7065 ORDO:223735 germinoblastic sarcoma germinoblastic sarcomas germinoblastoma germinoblastomas lymphoid cancer lymphomas malignant lymphoma malignant lymphomas reticulolymphosarcoma reticulolymphosarcomas lymphoma, somatic rgd_disease_ontology DOID:0060058 lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO) http://en.wikipedia.org/wiki/Lymphoma http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 http://www.nlm.nih.gov/medlineplus/lymphoma.html A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO) RAD54L-related condition EFO:0005952 ICDO:9591/3 MESH:D008228 MIM:605027 MONDO:0011508 NCI:C179055 NCI:C26919 NCI:C3211 ORDO:547 Diffuse Small Cleaved Cell Lymphoma Diffuse Undifferentiated Lymphoma High-Grade Lymphoma Intermediate-Grade Lymphoma Low-Grade Lymphoma Lymphatic Sarcoma Lymphoma, Atypical Diffuse Small Lymphoid Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic Lymphoma, Non-Hodgkin, Familial Lymphoma, Nonhodgkin Lymphoma, Small and Large Cleaved-Cell, Diffuse Lymphosarcoma Mixed Cell Lymphoma Mixed Lymphocytic-Histiocytic Lymphoma Mixed Lymphoma NHL diffuse lymphoma diffuse lymphomas diffuse mixed cell lymphoma diffuse mixed small and large cell lymphoma diffuse mixed-cell lymphomas diffuse undifferentiated lymphomas high-grade lymphomas intermediate-grade lymphomas low-grade lymphomas lymphatic sarcomas lymphosarcomas mixed lymphocytic-histiocytic lymphomas mixed lymphomas mixed-cell lymphomas non-Hodgkin malignant lymphoma non-Hodgkin's lymphoma non-Hodgkins lymphoma pleomorphic lymphoma pleomorphic lymphomas small non cleaved cell lymphoma small noncleaved cell lymphoma small noncleaved-cell lymphomas undifferentiated lymphoma rgd_disease_ontology Lymphoma, Non-Hodgkin, Susceptibility To DOID:0060060 non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO) http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma http://www.cancer.gov/dictionary?CdrID=45148 A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO) GARD:6226 MESH:D016410 MONDO:0000607 NCI:C186279 NCI:C3467 ORDO:171901 cutaneous T-cell lymphoma cutaneous T-cell lymphomas granulomatous slack skin rgd_disease_ontology DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO) http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. (DO) rgd 2017-11-16T00:00:00Z MIM:PS162000 ORDO:34149 ADTKD FJHN GCKD HNFJ MCKD familial juvenile hyperuricemic nephropathy glomerulocystic kidney disease hereditary interstitial kidney disease medullary cystic kidney disease tubulointerstitial nephritis rgd_disease_ontology DOID:0060062 autosomal dominant tubulointerstitial kidney disease A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. (DO) https://www.ncbi.nlm.nih.gov/books/NBK1356/ A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO) MIM:300751 ALAS2-RELATED CONDITION GARD:9456 MESH:C536761 ORDO:75563 ANH1 Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Iron-Loading Anemia SIDBA1 X chromosome-linked sideroblastic anemia X-LINKED SIDEROBLASTIC ANEMIA 1 X-linked pyridoxine-responsive sideroblastic anemia X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA congenital sideroblastic anaemia hereditary sideroblastic anemia sex-linked hypochromic sideroblastic anemia sideroblastic anaemia 1 ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY sideroblastic anaemia 1, late-onset rgd_disease_ontology DOID:0060063 sideroblastic anemia 1 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO) https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia true A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO) MESH:C567145 MIM:205950 MONDO:0008785 SIDBA2 SIDEROBLASTIC ANEMIA 2 SLC25A38-RELATED CONDITION autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 pyridoxine-refractory autosomal recessive sideroblastic anaemia pyridoxine-refractory autosomal recessive sideroblastic anemia pyridoxine-refractory sideroblastic anemia 2 rgd_disease_ontology DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO) https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO) MIM:206000 MESH:C565954 Anemia, Congenital Sideroblastic, B6-Responsive pyridoxine-responsive sideroblastic anemia, autosomal recessive rgd_disease_ontology DOID:0060066 pyridoxine-responsive sideroblastic anemia A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO) https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO) rgd 2017-10-26T00:00:00Z GARD:7343 MIM:557000 MONDO:0010797 NCI:C115326 ORDO:699 Pearson marrow-pancreas syndrome sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction rgd_disease_ontology DOID:0060067 Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO) http://en.wikipedia.org/wiki/Pearson_syndrome An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO) MESH:D059905 marantic endocarditides marantic endocarditis non-bacterial thrombotic endocarditis non-infective endocarditides non-infective endocarditis rgd_disease_ontology DOID:0060068 nonbacterial thrombotic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO) http://en.wikipedia.org/wiki/Marantic_endocarditis A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO) EFO:0006892 EFO:1000265 EFO:1000443 EFO:1000536 MESH:D011230 Precancerous Condition Preneoplastic Condition precancerous conditions preneoplastic conditions Clonal Hematopoiesis Gallbladder Biliary Intraepithelial Neoplasia Pancreatic Precancerous Condition Small Intestinal Intraepithelial Neoplasia cutaneous precancerous condition rgd_disease_ontology DOID:0060071 pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO) http://en.wikipedia.org/wiki/Neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO) rgd 2017-10-02T00:00:00Z EFO:0002422 MONDO:0005165 NCI:C3677 benign neoplasms rgd_disease_ontology DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO) http://en.wikipedia.org/wiki/Benign_neoplasm http://www.nlm.nih.gov/medlineplus/benigntumors.html An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO) rgd 2017-10-25T00:00:00Z rgd_disease_ontology DOID:0060073 lymphatic system cancer An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO) http://en.wikipedia.org/wiki/Lymphatic_system A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO) EFO:0000432 EFO:0008491 MESH:D002285 MONDO:0005023 DCIS Intraductal Carcinoma ductal breast carcinoma in situ intraductal carcinomas noninfiltrating intraductal carcinoma noninfiltrating intraductal carcinomas rgd_disease_ontology Atypical Ductal Hyperplasia atypical ductal hyperplasias DOID:0060074 ductal carcinoma in situ A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO) https://www.breastcancer.org/symptoms/types/dcis https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma A hormone receptor-positive breast cancer that is characterized by the presence of estrogen receptors. (DO) rgd 2017-08-31T00:00:00Z EFO:1000649 MONDO:0006512 rgd_disease_ontology DOID:0060075 estrogen receptor-positive breast cancer A hormone receptor-positive breast cancer that is characterized by the presence of estrogen receptors. (DO) PMID:25471040 https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html A hormone receptor-negative breast cancer that is characterized by the absence of estrogen receptors. (DO) rgd 2017-08-31T00:00:00Z EFO:1000650 MONDO:0006513 rgd_disease_ontology DOID:0060076 estrogen receptor-negative breast cancer A hormone receptor-negative breast cancer that is characterized by the absence of estrogen receptors. (DO) PMID:25471040 https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html A hormone receptor-positive breast cancer that is characterized by the presence of progesterone receptors. (DO) rgd 2017-08-31T00:00:00Z EFO:0009782 MONDO:0000615 rgd_disease_ontology DOID:0060077 progesterone receptor-positive breast cancer A hormone receptor-positive breast cancer that is characterized by the presence of progesterone receptors. (DO) PMID:25471040 https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html A hormone receptor-negative breast cancer that is characterized by the absence of progesterone receptors. (DO) rgd 2017-08-31T00:00:00Z EFO:0009781 MONDO:0000616 rgd_disease_ontology DOID:0060078 progesterone receptor-negative breast cancer A hormone receptor-negative breast cancer that is characterized by the absence of progesterone receptors. (DO) PMID:25471040 https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html A breast cancer that is characterized by excess HER2 (EBBR2) protein. (DO) rgd 2017-08-31T00:00:00Z EFO:1000294 HER2+ breast cancer Her2-receptor positive breast cancer human epidermal growth factor 2 positive breast cancer human epidermal growth factor receptor 2 positive breast cancer rgd_disease_ontology DOID:0060079 HER2 positive breast cancer A breast cancer that is characterized by excess HER2 (EBBR2) protein. (DO) PMID:22153890 https://www.bcrf.org/about-breast-cancer/her2-positive-breast-cancer-treatment-research/ https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-her2-status.html A breast cancer that is characterized by the absence of HER2 (EBBR2) protein. (DO) rgd 2017-08-31T00:00:00Z EFO:0009780 MONDO:0000618 HER2- breast cancer HER2-null breast cancer HER2-zero breast cancer Her2-receptor negative breast cancer human epidermal growth factor 2 negative breast cancer human epidermal growth factor receptor 2 negative breast cancer rgd_disease_ontology DOID:0060080 HER2 negative breast cancer A breast cancer that is characterized by the absence of HER2 (EBBR2) protein. (DO) PMID:40282933 PMID:41968415 PMID:42169015 PMID:42269397 https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-her2-status.html A breast cancer that is characterized by the absence of estrogen, progresterone and HER2 (EBBR2) receptors. (DO) rgd 2017-08-31T00:00:00Z EFO:0005537 HR-/HER2- breast cancer HR-negative/HER2-negative breast cancer TNBC human epidermal growth factor receptor 2 negative/hormone receptor negative breast cancer triple-negative breast cancer (TNBC / HR-/HER2-) triple-receptor negative breast cancer rgd_disease_ontology DOID:0060081 triple-negative breast cancer A breast cancer that is characterized by the absence of estrogen, progresterone and HER2 (EBBR2) receptors. (DO) PMID:22826413 https://www.bcrf.org/about-breast-cancer/triple-negative-breast-cancer-treatment-symptoms-research/ https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-her2-status.html A thoracic benign neoplasm that is characterized by lack of malignancy. (DO) RDO:9003366 rgd_disease_ontology DOID:0060082 breast benign neoplasm A thoracic benign neoplasm that is characterized by lack of malignancy. (DO) https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO) rgd 2017-11-03T00:00:00Z rgd_disease_ontology DOID:0060083 immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO) http://en.wikipedia.org/wiki/Immune_system A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO) http://en.wikipedia.org/wiki/Benign_tumor A benign neoplasm that is classified by the organ system from which it is arising from. (DO) DOID:1789 rgd_disease_ontology DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. (DO) https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO) rgd_disease_ontology DOID:0060086 female reproductive organ benign neoplasm A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK9559/ A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO) rgd 2017-10-02T00:00:00Z RDO:9002414 rgd_disease_ontology DOID:0060087 male reproductive organ benign neoplasm A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO) https://www.ncbi.nlm.nih.gov/books/NBK9556/ A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060088 vestibular gland benign neoplasm A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO) https://en.wikipedia.org/wiki/Bartholin%27s_gland https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060089 endocrine organ benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO) http://en.wikipedia.org/wiki/Endocrine_system A nervous system benign neoplasm that is characterized by lack of malignancy. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060090 central nervous system benign neoplasm A nervous system benign neoplasm that is characterized by lack of malignancy. (DO) https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060091 cardiovascular organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO) http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system An organ system benign neoplasm located_in the immune system organs. (DO) RDO:9002422 rgd_disease_ontology DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs. (DO) http://en.wikipedia.org/wiki/Immune_system A connective tissue benign neoplasm that is located_in bone. (DO) rgd_disease_ontology DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone. (DO) http://en.wikipedia.org/wiki/Bone_tumor A female reproductive organ benign neoplasm that is located_in the uterus. (DO) rgd 2017-10-02T00:00:00Z RDO:9002424 rgd_disease_ontology DOID:0060095 uterine benign neoplasm A female reproductive organ benign neoplasm that is located_in the uterus. (DO) https://en.wikipedia.org/wiki/Uterine_fibroid https://www.ncbi.nlm.nih.gov/books/NBK9559/ A nervous system benign neoplasm that is located_in a sensory organ. (DO) rgd_disease_ontology DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. (DO) http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplam that is located_in the thoracic cavity. (DO) rgd_disease_ontology DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity. (DO) http://en.wikipedia.org/wiki/Thoracic_cavity A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO) EFO:1000410 ICDO:9200/0 MESH:D018215 NCI:C3294 ORDO:58040 giant osteoid osteoma giant osteoid osteomas osteoblastomas rgd_disease_ontology DOID:0060098 osteoblastoma A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO) https://en.wikipedia.org/wiki/Osteoblastoma An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO) rgd 2017-11-02T00:00:00Z rgd_disease_ontology DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO) http://en.wikipedia.org/wiki/Musculoskeletal_system An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO) rgd 2017-11-02T00:00:00Z skeletal system cancer rgd_disease_ontology DOID:0060100 musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO) http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders true A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO) rgd_disease_ontology DOID:0060102 cartilage cancer A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO) https://en.wikipedia.org/wiki/Cartilage_tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO) ICDO:9473/3 NCI:C5398 CNS embryonal tumour, NEC/NOS central nervous system primitive neuroectodermal neoplasm rgd_disease_ontology DOID:0060103 central nervous system embryonal tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO) http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO) rgd 2017-10-18T00:00:00Z rgd_disease_ontology DOID:0060104 cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO) http://en.wikipedia.org/wiki/Medulloblastoma A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO) rgd 2017-10-25T00:00:00Z rgd_disease_ontology DOID:0060106 brain meningioma A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO) https://en.wikipedia.org/wiki/Meningioma A brain cancer that has_material_basis_in glial cells. (DO) MESH:C564230 Familial Glioma of Brain rgd_disease_ontology lower grade glioma DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells. (DO) http://cancergenome.nih.gov/cancersselected/lowergradeglioma http://www.cancer.gov/dictionary?CdrID=45700 A female reproductive organ benign neoplasm that is located_in the vulva. (DO) rgd_disease_ontology DOID:0060109 vulvar benign neoplasm A female reproductive organ benign neoplasm that is located_in the vulva. (DO) PMID:25220103 A female reproductive organ benign neoplasm that is located_in the cervix. (DO) rgd_disease_ontology DOID:0060110 cervical benign neoplasm A female reproductive organ benign neoplasm that is located_in the cervix. (DO) PMID:8400047 A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO) rgd 2017-10-24T00:00:00Z EFO:1000134 RDO:9003381 Borderline Fallopian Tube Serous Neoplasm rgd_disease_ontology DOID:0060111 fallopian tube benign neoplasm A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO) http://www.glowm.com/section_view/item/8 A female reproductive organ benign neoplasm that is located_in the ovary. (DO) EFO:0002507 EFO:1000113 EFO:1000116 EFO:1000117 MONDO:0000646 Benign Ovarian Endometrioid Tumor Benign Ovarian Surface Epithelial-Stromal Tumor ovarian adenoma benign rgd_disease_ontology DOID:0060112 ovarian benign neoplasm A female reproductive organ benign neoplasm that is located_in the ovary. (DO) PMID:24992780 A female reproductive organ benign neoplasm that is located_in the vagina. (DO) vaginal benign neoplasms rgd_disease_ontology DOID:0060114 vaginal benign neoplasm A female reproductive organ benign neoplasm that is located_in the vagina. (DO) https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO) rgd 2017-10-02T00:00:00Z rgd_disease_ontology DOID:0060115 nervous system benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO) http://en.wikipedia.org/wiki/Nervous_system A nervous system cancer that is located in the sensory system. (DO) rgd 2017-11-16T00:00:00Z rgd_disease_ontology DOID:0060116 sensory system cancer A nervous system cancer that is located in the sensory system. (DO) http://en.wikipedia.org/wiki/Sensory_system A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO) rgd_disease_ontology DOID:0060117 peritoneal benign neoplasm A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO) http://en.wikipedia.org/wiki/Peritoneal A disease of anatomical entity that is located_in the thoracic cavity. (DO) MESH:D013896 thoracic diseases rgd_disease_ontology DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity. (DO) http://en.wikipedia.org/wiki/Thoracic_cavity A gastrointestinal system cancer that is located_in the pharynx. (DO) rgd 2017-09-28T00:00:00Z EFO:0005577 EFO:1000472 MONDO:0005517 NCI:C3325 pharyngeal cancer pharyngeal adenoid cystic carcinoma rgd_disease_ontology DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. (DO) http://en.wikipedia.org/wiki/Pharynx An organ system benign neoplasm located_in the integumentary system organs. (DO) rgd 2017-10-30T00:00:00Z rgd_disease_ontology DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs. (DO) http://en.wikipedia.org/wiki/Integumentary_system An organ system cancer that is located_in the skin, hair and nails. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails. (DO) http://en.wikipedia.org/wiki/Integumentary_system A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO) rgd 2017-10-31T00:00:00Z NCI:C3377 mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue rgd_disease_ontology DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO) http://en.wikipedia.org/wiki/Connective_tissue_neoplasm A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO) EFO:1001341 ICD10CM:C88.2 ICDO:9762/3 MESH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 ORDO:86864 Heavy Chain Diseases gamma Chain Disease gamma-Chain Diseases rgd_disease_ontology DOID:0060125 heavy chain disease A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO) http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO) EFO:1001798 MESH:D007161 ORDO:100025 IPSID Seligmann's disease alpha heavy chain disease alpha-chain diseases heavy chain disease, IgA type immunoproliferative small intestinal disease mediterranean lymphoma rgd_disease_ontology DOID:0060126 alpha chain disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO) http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO) GARD:10346 MONDO:0015046 ORDO:100026 Franklin disease Franklin's disease Franklins disease rgd_disease_ontology DOID:0060127 gamma heavy chain disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO) PMID:2509855 A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO) mu-chain diseases rgd_disease_ontology DOID:0060128 mu chain disease A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO) http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO) rgd_disease_ontology DOID:0060129 delta chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO) http://en.wikipedia.org/wiki/Heavy_chain_disease An agnosia that is a loss of motion perception. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060130 akinetopsia An agnosia that is a loss of motion perception. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060131 alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO) MIM:191200 MESH:C566019 congenital amusia dysmelodia receptive amusia tone deafness tune deafness rgd_disease_ontology DOID:0060132 amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO) rgd 2017-11-01T00:00:00Z anosognosias rgd_disease_ontology DOID:0060133 anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish visual shapes. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000664 rgd_disease_ontology DOID:0060134 apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO) GARD:5838 ICD10CM:R48.2 MESH:D001072 MONDO:0000665 NCI:C180557 Articulatory Dyspraxia CAS DVD Developmental Verbal Apraxia Dressing Apraxia Dyspraxia Dyspraxias Facial-Oral Apraxia Facial-Oral Apraxias Gestural Apraxia Gestural Apraxias Ideational Apraxia Ideational Apraxias Motor Apraxia Motor Apraxias Oral Apraxia Oral Apraxias Oral Dyspraxia Oral Dyspraxias apraxia of phonation apraxias articulatory apraxia articulatory dyspraxias developmental verbal apraxias developmental verbal dyspraxia developmental verbal dyspraxias dressing apraxias phonation apraxia phonation apraxias verbal apraxia verbal apraxias verbal dyspraxia verbal dyspraxias rgd_disease_ontology DOID:0060135 apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060136 associative agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000667 congenital auditory agnosia rgd_disease_ontology DOID:0060137 auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to orient parts of the body. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060138 autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000669 rgd_disease_ontology DOID:0060139 color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO) MESH:D006313 rgd_disease_ontology DOID:0060140 cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060141 finger agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060142 form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060143 integrative agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060144 mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive and process pain. (DO) rgd 2017-11-01T00:00:00Z EFO:1001484 analgesia rgd_disease_ontology DOID:0060145 pain agnosia An agnosia that is a loss of the ability to perceive and process pain. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize familiar voices. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060146 phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060147 semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO) rgd 2017-11-01T00:00:00Z GARD:11943 MONDO:0000678 rgd_disease_ontology DOID:0060148 simultanagnosia An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO) rgd 2017-11-01T00:00:00Z expressive agnosia rgd_disease_ontology DOID:0060149 social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000680 somatosensory agnosia somatosensory agnosias rgd_disease_ontology DOID:0060150 astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000681 tactile agnosias rgd_disease_ontology DOID:0060151 tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO) rgd 2017-11-01T00:00:00Z MONDO:0000682 time agnosias rgd_disease_ontology DOID:0060152 time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO) rgd 2017-11-01T00:00:00Z topographical agnosias rgd_disease_ontology DOID:0060153 topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO) rgd 2017-11-01T00:00:00Z rgd_disease_ontology DOID:0060154 verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognize objects. (DO) MESH:C531604 monomodal visual amnesia primary visual agnosia visual agnosia for objects visual agnosias visual amnesia rgd_disease_ontology DOID:0060155 visual agnosia An agnosia that is a loss of the ability to visually recognize objects. (DO) http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO) MESH:D020237 Alexia Syndrome Without Agraphia Alexia Without Agraphia Alexia, Pure Pure Alexia Without Agraphia Pure Alexias Pure Word Blindness Pure Word Blindnesses alexia without agraphias visual verbal agnosias rgd_disease_ontology DOID:0060156 visual verbal agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO) http://en.wikipedia.org/wiki/Agnosia An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO) MESH:C531609 MONDO:0000687 Cazenave's vitiligo Celsus' Vitiligo Jonston's Alopecia alopecia celsi diffuse alopecia marginal alopecia patchy alopecia rgd_disease_ontology DOID:0060157 diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO) http://en.wikipedia.org/wiki/Alopecia_areata A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO) rgd 2017-10-27T00:00:00Z EFO:1000639 rgd_disease_ontology DOID:0060158 acquired metabolic disease A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO) http://en.wikipedia.org/wiki/Inborn_error_of_metabolism http://www.ncbi.nlm.nih.gov/mesh/68008659 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO) rgd 2017-10-20T00:00:00Z GARD:9433 organic acid metabolism disorder organic aciduria rgd_disease_ontology DOID:0060159 organic acidemia An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO) http://en.wikipedia.org/wiki/Aciduria A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO) MESH:D014897 NCI:C85076 ORDO:70 spinal muscular atrophies of childhood spinal muscular atrophy 1 spinal muscular atrophy of childhood survival motor neuron spinal muscular atrophy rgd_disease_ontology DOID:0060160 childhood spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO) http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO) MESH:C537017 MIM:313200 GARD:6818 MESH:D055534 NCI:C85233 ORDO:481 KD Kennedy Syndrome Kennedy disease Kennedy spinal and bulbar muscular atrophy Kennedys disease SBMA SMAX1 X linked bulbospinal muscular atrophy X-linked bulbo-spinal atrophies X-linked bulbo-spinal atrophy X-linked bulbospinal neuronopathy, recessive X-linked spinal and bulbar muscular atrophy X-linked spinal and bulbar muscular atrophy 1 XBSN spinal and bulbar muscular atrophy spinal bulbar muscular atrophy spinobulbar muscular atrophy rgd_disease_ontology DOID:0060161 Kennedy's disease A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO) http://en.wikipedia.org/wiki/Kennedy_disease An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO) rgd 2017-10-26T00:00:00Z MIM:125370 ATN1-RELATED CONDITION ATN1-RELATED DISORDERS congenital ATN1-related disorder GARD:5643 MESH:C538427 NCI:C122653 ORDO:101 DRPLA HRS Haw River syndrome Naito Oyanagi disease ataxia, chorea, seizures, and dementia myoclonic epilepsy with choreoathetosis rgd_disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO) http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO) MESH:D057215 Body Image Disfunction Body Image Disfunctions body dysmorphia body dysmorphic disorders body image disorder body image disorders dysmorphic syndrome dysmorphophobia rgd_disease_ontology dysmorphic features DOID:0060163 body dysmorphic disorder A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO) http://en.wikipedia.org/wiki/Body_dysmorphic_disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO) rgd_disease_ontology DOID:0060164 pain disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO) http://en.wikipedia.org/wiki/Pain_disorder A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO) MIM:148840 EFO:1001354 MESH:D017593 ORDO:33543 Familial Kleine Levin Syndrome Kleine Levin Critchley Syndrome Kleine Levin Hibernation Syndrome Periodic Hypersomnia familial hibernation (Kleine-Levin) syndrome periodic hypersomnias rgd_disease_ontology DOID:0060165 Kleine-Levin syndrome A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO) http://en.wikipedia.org/wiki/Kleine-Levin_syndrome A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO) rgd 2017-10-18T00:00:00Z DOID:0080221 MIM:309200 EFO:0009964 MESH:C564108 MAFD2 MDI MDX major affective disorder 2 manic-depressive illness manic-depressive psychosis, X-linked rgd_disease_ontology DOID:0060166 bipolar ll disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO) http://en.wikipedia.org/wiki/Bipolar_II A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO) MESH:D016574 seasonal affective disorders seasonal mood disorder seasonal mood disorders winter depression rgd_disease_ontology DOID:0060167 seasonal affective disorder A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO) http://en.wikipedia.org/wiki/Seasonal_affective_disorder A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO) GARD:6661 MESH:C538320 MIM:235800 MONDO:0009345 ORDO:2157 HAL deficiency HIS DEFICIENCY Histidase deficiency deficiency in histidase histidine ammonia-lyase deficiency histidinuria hyperhistidinemia increased histidine rgd_disease_ontology DOID:0060168 histidinemia A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO) http://en.wikipedia.org/wiki/Histidinemia https://ghr.nlm.nih.gov/condition/histidinemia An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO) rgd 2017-11-06T00:00:00Z GARD:1518 GARD:857 MIM:PS601764 NCI:C183308 ORDO:306 BFIC BFIE benign familial infantile convulsion benign familial infantile convulsions benign familial infantile convulsions syndrome benign familial infantile seizures rgd_disease_ontology DOID:0060169 benign familial infantile epilepsy An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO) PMID:12503648 An generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO) ICD10CM:G40.3 MESH:C565808 MIM:PS604233 MONDO:0018214 ORDO:36387 GEFS+ rgd_disease_ontology DOID:0060170 generalized epilepsy with febrile seizures plus An generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO) PMID:22011963 true An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO) rgd 2017-10-26T00:00:00Z MIM:PS607631 NCI:C129868 JAE juvenile absence epilepsies rgd_disease_ontology DOID:0060172 juvenile absence epilepsy An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO) PMID:27986418 A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO) CACNA1C-related disorder GARD:9294 MESH:C536962 MIM:601005 MONDO:0010979 NCI:C142894 ORDO:65283 TS long QT syndrome with syndactyly Timothy syndrome type 1 rgd_disease_ontology DOID:0060173 Timothy syndrome A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO) PMID:15863612 http://www.ncbi.nlm.nih.gov/books/NBK1403/ https://ghr.nlm.nih.gov/condition/timothy-syndrome A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO) MESH:C535407 MIM:613163 MONDO:0013166 ORDO:2066 4 alpha aminobutyrate transaminase deficiency GABA-transaminase deficiency Gamma aminobutyrate transaminase deficiency gamma aminobutyric acid transaminase deficiency gamma-amino butyric acid transaminase deficiency rgd_disease_ontology DOID:0060174 GABA aminotransferase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO) https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO) MESH:C535803 MIM:271980 MONDO:0010083 NCI:C206527 ORDO:22 4-hydroxybutyric aciduria 4-hydroxybutyricaciduria GABA metabolic defect SSADH SSADH deficiency SSADHD gamma-hydroxybutyric acidemia gamma-hydroxybutyric aciduria succinate-semialdehyde dehydrogenase deficiency rgd_disease_ontology DOID:0060175 succinic semialdehyde dehydrogenase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO) http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO) rgd 2017-10-20T00:00:00Z MONDO:0000698 ORDO:79175 rgd_disease_ontology DOID:0060176 gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO) PMID:12891648 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO) MIM:212200 MIM:236130 GARD:2730 MESH:C535328 NCI:C125661 ORDO:1361 ORDO:2168 carnosinase deficiency carnosinemia homocarnosinase deficiency rgd_disease_ontology DOID:0060177 homocarnosinosis A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO) http://en.wikipedia.org/wiki/Carnosinemia http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO) rgd 2017-11-09T00:00:00Z GARD:10975 ICD10CM:G43.8 ICD9CM:346.8 MIM:PS141500 ORDO:569 familial hemiplegic migraines rgd_disease_ontology DOID:0060178 familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO) http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO) ICD10CM:Q87.5 MESH:C537761 MIM:309500 MONDO:0010653 NCI:C165533 ORDO:3242 Golabi-Ito-Hall syndrome Hamel Cerebropalatocardiac Syndrome MRX55 MRXS3 MRXS8 PQBP1-RELATED CONDITION Porteous Syndrome RENS1 Renpenning syndrome 1 SHS Sutherland-Haan X-linked mental retardation syndrome Sutherland-Haan syndrome X-linked intellectual deficit due to PQBP1 mutations X-linked intellectual deficit, Renpenning type X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation syndromic 3 X-linked mental retardation with spastic diplegia X-linked mental retardation, 55 syndromic X-linked mental retardation 8 rgd_disease_ontology DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO) http://en.wikipedia.org/wiki/Renpenning%27s_syndrome An inflammatory bowel disease that involves inflammation located_in colon. (DO) EFO:0003872 MESH:D003092 MONDO:0005292 NCI:C26723 colitides rgd_disease_ontology DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. (DO) http://en.wikipedia.org/wiki/Colitis A colitis caused_by inadequate blood supply to the colon. (DO) ICD10CM:K55.9 MESH:D017091 rgd_disease_ontology DOID:0060181 ischemic colitis A colitis caused_by inadequate blood supply to the colon. (DO) http://en.wikipedia.org/wiki/Ischemic_colitis http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO) EFO:1001295 ICD10CM:K52.83 MESH:D046728 NCI:C38504 ORDO:58220 rgd_disease_ontology DOID:0060182 microscopic colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO) http://en.wikipedia.org/wiki/Microscopic_colitis http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO) EFO:1001293 GARD:6135 ICD10CM:K52.831 MESH:D046729 NCI:C27021 rgd_disease_ontology DOID:0060183 collagenous colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO) http://en.wikipedia.org/wiki/Collagenous_colitis https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO) EFO:1001294 GARD:6939 ICD10CM:K52.832 MESH:D046730 MONDO:0000704 NCI:C27147 ORDO:65279 rgd_disease_ontology DOID:0060184 lymphocytic colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO) http://en.wikipedia.org/wiki/Lymphocytic_colitis https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO) EFO:1001314 ICD10CM:A04.7 MESH:D004761 NCI:C128347 antibiotic associated colitis clostridium enterocolitis pseudomembranous colitis pseudomembranous enteritis pseudomembranous enterocolitis rgd_disease_ontology DOID:0060185 Clostridium difficile colitis A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO) http://en.wikipedia.org/wiki/Clostridium_difficile_colitis http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm A colitis caused_by introduction of various chemicals. (DO) rgd 2017-10-17T00:00:00Z ICD10CM:K52 ICD9CM:558 rgd_disease_ontology DOID:0060186 chemical colitis A colitis caused_by introduction of various chemicals. (DO) PMID:18209577 http://en.wikipedia.org/wiki/Chemical_colitis A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO) rgd 2017-10-17T00:00:00Z rgd_disease_ontology DOID:0060187 diversion colitis A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO) PMID:1916483 http://en.wikipedia.org/wiki/Diversion_colitis An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO) rgd 2017-10-17T00:00:00Z ICD10CM:K50.0 MONDO:0000708 rgd_disease_ontology DOID:0060188 jejunoileitis An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO) PMID:15973125 http://en.wikipedia.org/wiki/Crohn%27s_disease An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO) MESH:D007079 MONDO:0000709 NCI:C84782 Crohn's ileitis rgd_disease_ontology DOID:0060189 ileitis An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO) http://en.wikipedia.org/wiki/Ileitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. (DO) rgd 2017-10-17T00:00:00Z EFO:0005624 MONDO:0005534 rgd_disease_ontology DOID:0060190 ileocolitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. (DO) https://my.clevelandclinic.org/health/diseases/9357-crohns-disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO) rgd 2017-10-17T00:00:00Z upper GI Crohn's disease rgd_disease_ontology DOID:0060191 gastroduodenal Crohn's disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO) PMID:12769447 http://en.wikipedia.org/wiki/Crohn%27s_disease An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO) rgd 2017-10-17T00:00:00Z EFO:0005622 ICD10CM:K50.1 ICD9CM:555.1 MONDO:0005532 NCI:C35211 NCI:C37262 rgd_disease_ontology DOID:0060192 Crohn's colitis An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO) http://en.wikipedia.org/wiki/Crohn%27s_disease An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO) NEFH-related condition PRPH-related condition MESH:C531617 MIM:105400 MONDO:0007103 NCI:C168749 ALS1 FALS amyotrophic lateral sclerosis 1 amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive amyotrophic lateral sclerosis 1, familial rgd_disease_ontology amyotrophic lateral sclerosis, autosomal dominant amyotrophic lateral sclerosis, dominant amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, sporadic DOID:0060193 amyotrophic lateral sclerosis type 1 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO) http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO) ALSJ juvenile ALS GARD:9470 MESH:C565957 MIM:205100 MONDO:0008780 ALS2 AMYOTROPHIC LATERAL SCLEROSIS TYPE 2, JUVENILE amyotrophic lateral sclerosis 2 juvenile amyotrophic lateral sclerosis 2 rgd_disease_ontology ALS2-related spectrum disorders DOID:0060194 amyotrophic lateral sclerosis type 2 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO) MIM:205100 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO) GARD:10501 MESH:C564688 MIM:606640 MONDO:0011691 ALS3 amyotrophic lateral sclerosis 3 rgd_disease_ontology DOID:0060195 amyotrophic lateral sclerosis type 3 An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO) MIM:606640 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO) SETX-RELATED CONDITION SETX-related disorder SETX-related disorders GARD:10502 ICD10CM:G12.2 MESH:C566550 MIM:602433 MONDO:0011223 ORDO:357043 ALS 4 ALS4 amyotrophic lateral sclerosis 4 dHMN with upper motor neuron signs distal hereditary motor neuronopathy with pyramidal features distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs juvenile amyotrophic lateral sclerosis 4 rgd_disease_ontology DOID:0060196 amyotrophic lateral sclerosis type 4 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO) MIM:602433 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO) GARD:10503 MESH:C566576 MIM:602099 MONDO:0011196 ALS5 amyotrophic lateral sclerosis 5 juvenile amyotrophic lateral sclerosis 5 rgd_disease_ontology DOID:0060197 amyotrophic lateral sclerosis type 5 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO) MIM:602099 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO) MESH:C567699 MIM:608030 FUS-RELATED CONDITION GARD:9874 MESH:C538251 NCI:C168750 ALS6 amyotrophic lateral sclerosis 6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6 rgd_disease_ontology DOID:0060198 amyotrophic lateral sclerosis type 6 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO) MIM:608030 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO) GARD:10500 MESH:C564300 MIM:608031 MONDO:0011952 ALS7 amyotrophic lateral sclerosis 7 rgd_disease_ontology DOID:0060199 amyotrophic lateral sclerosis type 7 An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO) MIM:608031 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO) ANG-related condition GARD:10498 MESH:C567499 MIM:611895 MONDO:0012753 NCI:C214854 ALS9 amyotrophic lateral sclerosis 9 rgd_disease_ontology DOID:0060200 amyotrophic lateral sclerosis type 9 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO) MIM:611895 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO) TARDBP-related condition GARD:10497 MESH:C567429 MIM:612069 MONDO:0012790 NCI:C168752 ALS10 AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA amyotrophic lateral sclerosis 10 rgd_disease_ontology FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED FTLD-TDP, TARDBP-related TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions DOID:0060201 amyotrophic lateral sclerosis type 10 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO) MIM:612069 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO) GARD:10496 MESH:C567244 MIM:612577 MONDO:0012945 NCI:C168753 ALS11 amyotrophic lateral sclerosis 11 rgd_disease_ontology DOID:0060202 amyotrophic lateral sclerosis type 11 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO) MIM:612577 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO) MIM:613435 ALS12 amyotrophic lateral sclerosis 12 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia rgd_disease_ontology DOID:0060203 amyotrophic lateral sclerosis type 12 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO) MIM:613435 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO) rgd 2017-11-02T00:00:00Z ALS13 amyotrophic lateral sclerosis 13 rgd_disease_ontology DOID:0060204 amyotrophic lateral sclerosis type 13 An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO) MIM:183090 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO) MIM:613954 MONDO:0013501 NCI:C168754 ALS14 FTDALS6 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis 14 without frontotemporal dementia amyotrophic lateral sclerosis 14, with or without frontotemporal dementia amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES rgd_disease_ontology DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO) MIM:613954 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO) MIM:300857 MONDO:0010459 NCI:C214855 ALS15 UBQLN2-RELATED DISORDER amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia rgd_disease_ontology DOID:0060206 amyotrophic lateral sclerosis type 15 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO) MIM:300857 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO) MIM:614373 MONDO:0013715 NCI:C214871 ALS16 amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis 16, juvenile rgd_disease_ontology DOID:0060207 amyotrophic lateral sclerosis type 16 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO) MIM:614373 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis true An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO) MIM:614808 NCI:C214856 ALS18 PFN1-RELATED CONDITION amyotrophic lateral sclerosis 18 rgd_disease_ontology DOID:0060209 amyotrophic lateral sclerosis type 18 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO) MIM:614808 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO) ERBB4-related condition MIM:615515 MONDO:0014223 NCI:C214857 ALS19 amyotrophic lateral sclerosis 19 rgd_disease_ontology DOID:0060210 amyotrophic lateral sclerosis type 19 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO) MIM:615515 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO) MIM:615426 MONDO:0014181 NCI:C214858 ALS20 amyotrophic lateral sclerosis 20 rgd_disease_ontology DOID:0060211 amyotrophic lateral sclerosis type 20 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO) MIM:615426 http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO) MIM:606070 MESH:C565262 NCI:C168755 ORDO:600 ALS21 AMYOTROPHIC LATERAL SCLEROSIS 21 Distal Myopathy with Vocal Cord Weakness MATR3-RELATED DISORDER Matrin 3 Distal Myopathy Mpd2 Myopathia Distalis Type 2 VCPDM amyotropic lateral sclerosis 21 distal myopathy 2 distal myopathy with vocal cord and pharyngeal signs vocal cord and pharyngeal dysfunction with distal myopathy vocal cord and pharyngeal weakness with distal myopathy rgd_disease_ontology DOID:0060212 amyotrophic lateral sclerosis type 21 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO) MIM:606070 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO) MIM:105550 MONDO:0007105 NCI:C168756 C9orf72-FTD/ALS FTDALS1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 rgd_disease_ontology DOID:0060213 Updated nomenclature:sources https://www.cell.com/neuron/abstract/S0896-6273(25)00286-7 and https://www.ncbi.nlm.nih.gov/books/NBK268647/ -csbjohnson C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO) MIM:105550 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO) MIM:615911 MONDO:0014395 NCI:C214862 FTDALS2 rgd_disease_ontology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO) MIM:615911 PMID:24934289 A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO) rgd 2017-10-18T00:00:00Z GARD:5885 ICD10CM:G37.0 ICD9CM:341.1 NCI:C84670 Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis rgd_disease_ontology DOID:0060215 Balo concentric sclerosis A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO) PMID:32140322 http://en.wikipedia.org/wiki/Balo_concentric_sclerosis https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx https://www.ncbi.nlm.nih.gov/articles/PMC3110404/ An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO) GARD:1421 ICD10CM:H16.32 MESH:D055952 ORDO:1467 Cogan's Syndrome Cogans Syndrome rgd_disease_ontology diffuse interstitual keratitis DOID:0060216 Cogan syndrome An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO) http://en.wikipedia.org/wiki/Cogan_syndrome An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO) rgd 2017-10-20T00:00:00Z GARD:6125 MONDO:0020370 NCI:C84644 ORDO:98980 rgd_disease_ontology DOID:0060217 Cogan-Reese syndrome An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO) http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO) GARD:12430 ICD10CM:M34.1 MESH:D017675 NCI:C70646 ORDO:90290 CREST syndromes CRST Syndrome CRST syndromes Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome rgd_disease_ontology DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO) http://en.wikipedia.org/wiki/CREST_syndrome A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO) rgd 2017-10-17T00:00:00Z lymph node adenoid cystic cancer rgd_disease_ontology DOID:0060219 lymph node adenoid cystic carcinoma A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ An urticaria induced by external physical influences. (DO) rgd 2017-10-27T00:00:00Z EFO:1000754 EFO:1001871 EFO:1001881 MONDO:0006599 acquired cold urticaria cold urticaria rgd_disease_ontology DOID:0060220 physical urticaria An urticaria induced by external physical influences. (DO) http://en.wikipedia.org/wiki/Physical_urticaria http://www.dermnetnz.org/reactions/urticaria.html A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO) rgd 2017-10-23T00:00:00Z GARD:6958 MIM:614569 MONDO:0013808 ORDO:163634 multiple enchondromatosis, Maffucci type rgd_disease_ontology DOID:0060221 Maffucci syndrome A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO) http://en.wikipedia.org/wiki/Maffucci_syndrome http://ghr.nlm.nih.gov/condition/maffucci-syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO) rgd 2017-10-26T00:00:00Z GARD:12561 ICD10CM:E76.0 MIM:607016 NCI:C61265 ORDO:93474 MPS V MPS1-S MPS5 MUCOPOLYSACCHARIDOSIS, MPS-I-S Scheie's syndrome mucopolysaccharidosis 5 mucopolysaccharidosis I S mucopolysaccharidosis Is mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V rgd_disease_ontology DOID:0060222 Scheie syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO) http://en.wikipedia.org/wiki/Scheie_syndrome An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO) MESH:D000381 Acquired Agraphia Acquired Dysgraphia Agraphias Constructional Agraphia Developmental Agraphia Developmental Agraphias Developmental Dysgraphia acquired agraphias acquired dysgraphias constructional agraphias developmental dysgraphias pure agraphia pure agraphias rgd_disease_ontology DOID:0060223 agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO) PMID:21507544 http://en.wikipedia.org/wiki/Agraphia A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO) EFO:0000275 ICD9CM:427.31 MESH:D001281 NCI:C50466 A-fib AFib atrial fibrillations auricular fibrillation auricular fibrillations persistent atrial fibrillation persistent atrial fibrillations ATRIAL FIBRILLATION, SOMATIC rgd_disease_ontology atrial fibrillation, association with DOID:0060224 atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO) http://en.wikipedia.org/wiki/Atrial_fibrillation http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 http://www.nhlbi.nih.gov/health/health-topics/topics/af A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO) rgd 2017-07-24T00:00:00Z GARD:1118 MIM:PS257920 ORDO:293843 Malpuech-Michels-Mingarelli-Carnevale syndrome craniofacial-ulnar-renal syndrome rgd_disease_ontology DOID:0060225 3MC syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO) PMID:16096999 An acrofrontofacionasal dysostosis that is characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO) MESH:C538186 MIM:201180 MONDO:0100044 ORDO:1784 AFFN dysostosis Richieri-Costa-Colletto syndrome acro fronto facio nasal dysostosis acrofrontofacionasal dysostosis syndrome cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate rgd_disease_ontology DOID:0060226 acrofrontofacionasal dysostosis 1 An acrofrontofacionasal dysostosis that is characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO) PMID:2986457 PMID:34400385 http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO) GARD:5739 MESH:C538225 MIM:PS100300 MONDO:0007034 ORDO:974 AOS absence defect of limbs, scalp, and skull aplasia cutis congenita with terminal transverse limb defects aplasia cutis congenita, congenital heart defect, and frontonasal cysts aplasia cutis of the scalp congenital defect of skull and scalp congenital scalp defect congenital scalp defects with distal limb reduction anomalies familial aplasia cutis congenita of the scalp scalp and head syndrome scalp defects with ectrodactyly rgd_disease_ontology DOID:0060227 Adams-Oliver syndrome A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO) PMID:18000904 http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO) rgd 2017-11-09T00:00:00Z MIM:PS105800 ORDO:231160 familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm rgd_disease_ontology DOID:0060228 intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO) https://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms https://radiopaedia.org/articles/saccular-cerebral-aneurysm A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO) rgd 2017-11-09T00:00:00Z GARD:5279 MESH:C563904 MESH:C565258 MIM:PS243310 ORDO:2995 COFLS Fryns-Aftimos syndrome cerebrofrontofacial syndrome cerebrooculofacial lymphatic syndrome mental retardation with epilepsy and characteristic facies pachygyria, mental retardation, epilepsy, and characteristic facies rgd_disease_ontology DOID:0060229 Baraitser-Winter syndrome A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO) http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO) rgd 2017-11-09T00:00:00Z MIM:PS213600 MONDO:0008947 NCI:C129973 ORDO:1980 Fahr disease rgd_disease_ontology DOID:0060230 basal ganglia calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO) http://en.wikipedia.org/wiki/Fahr%27s_syndrome http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO) rgd 2017-11-09T00:00:00Z ICD10CM:M21.8 MIM:PS259450 MONDO:0017195 ORDO:2771 osteogenesis imperfecta with congenital joint contractures rgd_disease_ontology DOID:0060231 Bruck syndrome A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO) PMID:9129737 http://en.wikipedia.org/wiki/Bruck_syndrome A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO) GARD:10148 MESH:C537104 MIM:PS602588 MONDO:0018878 ORDO:52429 BO syndrome BOR Branchiootic dysplasia INNER EAR MALFORMATION rgd_disease_ontology DOID:0060232 branchiootic syndrome A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO) PMID:22901925 https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO) GARD:9146 MESH:C535579 MIM:PS115150 MONDO:0015280 NCI:C84617 ORDO:1340 CFC syndrome CFCS cardio-facial-cutaneous syndrome cardio-facio-cutaneous syndrome rgd_disease_ontology DOID:0060233 cardiofaciocutaneous syndrome A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO) http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO) rgd 2017-11-09T00:00:00Z GARD:6003 MESH:C563187 MIM:PS201000 MONDO:0019012 NCI:C98873 ORDO:65759 ACPS 2 ACPS II acrocephalopolysyndactyly type 2 acrocephalopolysyndactyly type II rgd_disease_ontology DOID:0060234 Carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO) http://en.wikipedia.org/wiki/Carpenter_syndrome http://ghr.nlm.nih.gov/condition/carpenter-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO) CARNITINE DEFICIENCY CPT2-RELATED DISORDER MESH:C535589 MONDO:0015515 NCI:C114766 ORDO:157 CPT II deficiency CPT-II CPT2 deficiency carnitine palmitoyl transferase 2 deficiency carnitine palmitoyltransferase 2 deficiency carnitine palmitoyltransferase deficiency type 2 infantile carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency muscle form of carnitine palmitoyltransferase deficiency rgd_disease_ontology DOID:0060235 carnitine palmitoyltransferase II deficiency A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO) http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO) rgd 2017-11-09T00:00:00Z MIM:PS278300 ORDO:3467 XDH deficiency classic xanthinuria deficiency of xanthine oxidase hereditary xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency rgd_disease_ontology DOID:0060236 xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO) PMID:4369449 http://en.wikipedia.org/wiki/Xanthinuria https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO) OMIA:001970 MESH:C536681 MIM:PS600118 ORDO:2510 WARBM Warburg Sjo Fledelius syndrome micro syndrome polyneuropathy, ocular abnormalities and neuronal vacuolation rgd_disease_ontology DOID:0060237 Warburg micro syndrome A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO) PMID:22768674 http://en.wikipedia.org/wiki/Micro_syndrome A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO) GARD:5456 MESH:C536530 MIM:PS601390 ORDO:314679 Cerebro-facio-articular syndrome of Van Maldergem Cerebrofacioarticular syndrome Van Maldergem Wetzburger Verloes syndrome cerebro-facio-articular syndrome rgd_disease_ontology DOID:0060238 Van Maldergem syndrome A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO) PMID:1633641 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO) GARD:8414 ICD10CM:Q38.0 MESH:C536528 MONDO:0019508 NCI:C74986 ORDO:888 Cleft lip and-or palate with mucous cysts of lower lip LPS Lip pit syndrome PIT VDWS rgd_disease_ontology DOID:0060239 Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO) http://en.wikipedia.org/wiki/Van_der_Woude_syndrome http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO) MESH:C563466 MIM:PS600630 ORDO:178338 rgd_disease_ontology DOID:0060240 UV-sensitive syndrome A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO) http://en.wikipedia.org/wiki/UV-sensitive_syndrome http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO) GARD:5667 MESH:C535314 MIM:PS273750 ORDO:2616 3M syndrome Gloomy Face Syndrome Le Merrer syndrome Miller-McKusick-Malvaux syndrome Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Three-M Slender-Boned Nanism Yakut short stature syndrome dolichospondylic dysplasia three-M syndrome GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME rgd_disease_ontology DOID:0060241 3-M syndrome A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO) http://en.wikipedia.org/wiki/3-M_syndrome http://ghr.nlm.nih.gov/condition/3-m-syndrome A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO) rgd 2017-11-09T00:00:00Z GARD:5087 NCI:C75003 ORDO:295195 ORDO:93403 syndactyly type 2 rgd_disease_ontology DOID:0060242 synpolydactyly A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO) PMID:18177473 PMID:8817328 http://en.wikipedia.org/wiki/Synpolydactyly An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO) ICD10CM:F80.81 MESH:D013342 MIM:PS184450 NCI:C35043 acquired stuttering adult stuttering childhood stuttering developmental stuttering familial persistent stuttering stammering rgd_disease_ontology DOID:0060243 stuttering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO) http://en.wikipedia.org/wiki/Stuttering http://www.asha.org/public/speech/disorders/stuttering.htm http://www.merriam-webster.com/dictionary/stutter A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO) rgd 2017-11-08T00:00:00Z EFO:1001510 MESH:D000080888 MIM:PS606711 ORDO:211053 specific language disorder specific language disorders rgd_disease_ontology DOID:0060244 specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO) PMID:19646677 http://en.wikipedia.org/wiki/Specific_language_impairment A hereditary spastic paraplegia associated with dementia. (DO) MESH:C565409 MIM:248900 MONDO:0009568 ORDO:101001 SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 rgd_disease_ontology DOID:0060245 MAST syndrome A hereditary spastic paraplegia associated with dementia. (DO) PMID:6024251 http://ghr.nlm.nih.gov/gene/SPG21 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO) GARD:6986 MESH:C536029 MIM:303350 MONDO:0010559 NCI:C129930 ORDO:2466 Crash syndrome Gareis-Mason syndrome L1 syndrome MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA) Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Spastic paraplegia 1, X-linked Spastic paraplegia, type 1 Spg1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked hydrocephalus syndrome X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas) adducted thumb with mental retardation clasped thumb and mental retardation congenital clasped thumb with mental retardation hereditary spastic paraplegia 1 rgd_disease_ontology DOID:0060246 MASA syndrome A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO) http://en.wikipedia.org/wiki/MASA_syndrome http://ghr.nlm.nih.gov/condition/l1-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO) GARD:10620 MESH:C564589 MIM:PS607326 ORDO:178355 SMC rgd_disease_ontology DOID:0060247 Smith-McCort dysplasia A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO) PMID:1216821 https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO) MIM:312870 GPC3-RELATED CONDITION GARD:7649 MESH:C537340 NCI:C118787 ORDO:373 DGSX DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SDYS SGB syndrome SGBS SGBS1 Sara Angers syndrome Simpson dysmorphia syndrome Simpson dysplasia syndrome Simpson syndrome Simpson-Golabi-Behmel syndrome bulldog syndrome dysplasia gigantism syndrome, X-linked mental retardation-overgrowth syndrome rgd_disease_ontology DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO) PMID:36720533 http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO) EFO:0004273 ICD10CM:M41.9 MESH:D012600 MONDO:0005392 NCI:C78603 scolioses congenital scoliosis rgd_disease_ontology DOID:0060249 scoliosis A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO) http://en.wikipedia.org/wiki/Scoliosis http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 A scoliosis with no known cause. (DO) rgd 2017-11-10T00:00:00Z EFO:0005423 GARD:552 MIM:181800 MIM:607354 MIM:608765 MIM:612238 MIM:612239 MIM:621428 MIM:PS181800 MONDO:0000726 ADOLESCENT ISOLATED SCOLIOSIS AIS adolescent idiopathic scoliosis rgd_disease_ontology IS1 IS2 IS3 IS4 IS5 Isolated Scoliosis, Susceptibility to, 1 Isolated Scoliosis, Susceptibility to, 2 Isolated Scoliosis, Susceptibility to, 3 Isolated Scoliosis, Susceptibility to, 4 SLC6A9-RELATED CONDITION SUSCEPTIBILITY TO ISOLATED SCOLIOSIS 6 Scoliosis, isolated, susceptibility to, 6 idiopathic scoliosis, 3 isolated scoliosis, susceptibility to, 5 DOID:0060250 idiopathic scoliosis A scoliosis with no known cause. (DO) http://en.wikipedia.org/wiki/Scoliosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO) RDO:0003382 GARD:4771 MESH:C537525 MIM:PS269500 NCI:C131133 ORDO:3152 Cortical hyperostosis with syndactyly SOST rgd_disease_ontology DOID:0060251 sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO) PMID:11836356 http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO) MESH:C565209 MONDO:0019629 ORDO:91490 isolated congenital sclerocornea SCLEROCORNEA, AUTOSOMAL RECESSIVE rgd_disease_ontology DOID:0060252 sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO) PMID:3994576 http://en.wikipedia.org/wiki/Sclerocornea A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO) MESH:C536624 MONDO:0000727 scapuloperoneal muscular dystrophy scapuloperoneal syndrome, myopathic type MYH7-related late-onset scapuloperoneal muscular dystrophy rgd_disease_ontology DOID:0060253 scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO) PMID:28179901 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO) RDO:0012199 GARD:312 MESH:C562492 MIM:PS268310 NCI:C85048 ORDO:97360 Robinow dwarfism Robinow-Silverman-Smith syndrome acral dysostosis with facial and genital abnormalities autosomal dominant Robinow syndrome fetal face syndrome mesomelic dwarfism-small genitalia syndrome rgd_disease_ontology DOID:0060254 Robinow syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO) http://en.wikipedia.org/wiki/Robinow_syndrome http://ghr.nlm.nih.gov/condition/robinow-syndrome https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO) DOID:0110302 MIM:606072 GARD:9164 MESH:C563362 NCI:C148318 NCI:C148325 ORDO:265 ORDO:97238 LGMD1C RMD RMD2 autosomal dominant limb-girdle muscular dystrophy type 1C caveolinopathy limb-girdle muscular dystrophy due to caveolin-3 deficiency limb-girdle muscular dystrophy type 1C limb-girdle muscular dystrophy type 1C, autosomal recessive muscular dystrophy limb-girdle type IC rippling muscle disease 2, autosomal recessive rgd_disease_ontology DOID:0060255 rippling muscle disease 2 A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO) PMID:9537420 http://ghr.nlm.nih.gov/condition/rippling-muscle-disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO) GARD:9775 MESH:C562924 MIM:PS179850 ORDO:79145 DDD Dowling-Degos-Kitamura disease RPK acropigmentatio reticularis dark dot disease reticular pigment anomaly of flexures rgd_disease_ontology DOID:0060256 Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO) http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures http://ghr.nlm.nih.gov/condition/dowling-degos-disease A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO) MESH:C535729 MIM:127400 MONDO:0007483 NCI:C118435 ORDO:41 DSH DSH1 Dyschromatosis Symmetrica Hereditaria 1 Familial reticulate acropigmentation of Dohi RAD reticulate acropigmentation of Dohi symmetric dyschromatosis of the extremities symmetrical dyschromatosis of extremities rgd_disease_ontology DOID:0060257 dyschromatosis symmetrica hereditaria A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO) PMID:22974014 http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO) MIM:615537 ORDO:178307 Acropigmentatio Reticularis Kitamura Reticulate Acropigmentation RAK RAPK RPK Reticulate Pigmentation of Kitamura rgd_disease_ontology DOID:0060258 reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO) PMID:22808308 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO) rgd 2017-11-10T00:00:00Z MESH:C567142 MIM:PS208540 ORDO:294415 Ivemark's syndrome RHPD rgd_disease_ontology DOID:0060259 renal-hepatic-pancreatic dysplasia A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO) PMID:17605805 http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO) ICD10CM:H02.4 ICD9CM:374.3 MESH:D001763 NCI:C27298 ORDO:98578 Eyelid Ptoses blepharoptoses blepharoptosis drooping eyelid eyelid ptosis rgd_disease_ontology DOID:0060260 ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO) http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 A ptosis characterized by superior eyelid drop present at birth. (DO) rgd 2017-11-10T00:00:00Z ICD10CM:Q10.0 ICD9CM:743.61 NCI:C27049 ORDO:91411 hereditary congenital ptosis rgd_disease_ontology DOID:0060261 congenital ptosis A ptosis characterized by superior eyelid drop present at birth. (DO) http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 https://eyewiki.aao.org/Ptosis,_Congenital A gastrointestinal system disease that is located_in the gallbladder. (DO) RDO:0002740 EFO:0003832 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 MIM:PS600803 NCI:C34631 Gall Bladder Diseases gall bladder disease gallbladder diseases rgd_disease_ontology DOID:0060262 gallbladder disease A gastrointestinal system disease that is located_in the gallbladder. (DO) http://en.wikipedia.org/wiki/Gallbladder_disease A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO) GARD:7430 ICD10CM:Q04.6 MESH:D065708 MONDO:0017410 ORDO:2940 ADT1P Familial Porencephalic White Matter Disease Familial Porencephaly Infantile Hemiplegia with Porencephaly congenital porencephaly developmental porencephaly encephaloclastic porencephaly porencephalies post traumatic porencephaly POREN1 T1P autosomal dominant porencephaly type 1 porencephaly 1 porencephaly type 1 rgd_disease_ontology DOID:0060263 porencephaly A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO) https://en.wikipedia.org/wiki/Cerebral_softening https://en.wikipedia.org/wiki/Porencephaly A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO) GARD:10977 MESH:C580383 MIM:PS607596 MONDO:0020135 ORDO:98523 PCH PONTONEOCEREBELLAR HYPOPLASIA congenital pontocerebellar hypoplasia HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA rgd_disease_ontology DOID:0060264 pontocerebellar hypoplasia A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO) https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO) CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1 MIM:607596 MONDO:0011866 ORDO:2254 PCH1A pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia with infantile spinal muscular atrophy rgd_disease_ontology DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS DOID:0060265 pontocerebellar hypoplasia type 1A A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO) PMID:12548734 A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO) NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA MIM:614678 NCI:C190872 EXOSC3-RELATED CONDITION PCH1B rgd_disease_ontology DOID:0060266 pontocerebellar hypoplasia type 1B A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO) PMID:25149867 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) TSEN54-RELATED CONDITION GARD:3631 MESH:C564738 MIM:277470 MONDO:0010190 PCH2A Volendam neurodegenerative disease pontocerebellar hypoplasia with progressive cerebral atrophy rgd_disease_ontology DOID:0060267 pontocerebellar hypoplasia type 2A A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) MIM:277470 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO) MESH:C567325 MIM:612389 MONDO:0012890 PCH2B TSEN2-RELATED CONDITION rgd_disease_ontology DOID:0060268 pontocerebellar hypoplasia type 2B A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO) MIM:612389 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO) MIM:612390 MESH:C567324 PCH2C TSEN34-RELATED CONDITION rgd_disease_ontology DOID:0060269 pontocerebellar hypoplasia type 2C A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO) MIM:612390 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO) SEPSECS-related condition MIM:613811 MONDO:0013438 CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE PCCA PCH2D rgd_disease_ontology DOID:0060270 pontocerebellar hypoplasia type 2D A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO) MIM:613811 A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (DO) VPS53-related condition MIM:615851 MONDO:0014370 PCH2E rgd_disease_ontology DOID:0060271 pontocerebellar hypoplasia type 2E A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (DO) MIM:615851 PMID:24577744 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO) PCLO-related condition GARD:10708 MESH:C548072 MIM:608027 MONDO:0011948 ORDO:97249 CLAM PCH with optic atrophy PCH3 cerebellar atrophy with progressive microcephaly rgd_disease_ontology DOID:0060272 pontocerebellar hypoplasia type 3 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO) PMID:19277761 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) MIM:225753 TSEN54-RELATED CONDITION GARD:343 MESH:C536716 ORDO:166063 PCH4 Young McKeever Squier syndrome fatal infantile encephalopathy with olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia lethal type rgd_disease_ontology DOID:0060273 pontocerebellar hypoplasia type 4 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) PMID:18711368 A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) GARD:10709 MESH:C537745 MIM:610204 MONDO:0012438 ORDO:166068 PCH5 fetal-onset olivopontocerebellar hypoplasia rgd_disease_ontology DOID:0060274 pontocerebellar hypoplasia type 5 A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO) PMID:16470708 A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO) MIM:611523 GARD:10710 MESH:C548074 ORDO:166073 PCH6 RARS2-RELATED CONDITION fatal infantile encephalopathy with mitochondrial respiratory chain defects rgd_disease_ontology DOID:0060275 pontocerebellar hypoplasia type 6 A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO) MIM:611523 PMID:17847012 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO) TOE1-related condition MIM:614969 MONDO:0013993 ORDO:284339 PCH7 rgd_disease_ontology DOID:0060276 pontocerebellar hypoplasia type 7 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO) PMID:21594990 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO) MIM:614961 ORDO:324569 CHMP1A-RELATED CONDITION PCH8 rgd_disease_ontology DOID:0060277 pontocerebellar hypoplasia type 8 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO) PMID:23023333 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO) AMPD2-RELATED CONDITION MIM:615809 MONDO:0014351 ORDO:369920 PCH9 rgd_disease_ontology DOID:0060278 pontocerebellar hypoplasia type 9 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO) PMID:23911318 A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO) CLP1-related condition MIM:615803 MONDO:0014349 ORDO:411493 PCH10 rgd_disease_ontology DOID:0060279 pontocerebellar hypoplasia type 10 A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO) PMID:24766809 PMID:24766810 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO) rgd 2017-11-10T00:00:00Z GARD:10906 MIM:PS610489 MONDO:0015999 ORDO:189439 ORDO:647772 PPNAD rgd_disease_ontology DOID:0060280 primary pigmented nodular adrenocortical disease An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO) PMID:2212318 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO) rgd 2017-11-10T00:00:00Z GARD:5648 MIM:PS132100 ORDO:166409 RDO:9004946 PSE photogenic epilepsy photoparoxysmal response photosensitive epilepsies rgd_disease_ontology DOID:0060281 photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO) http://en.wikipedia.org/wiki/Photosensitive_epilepsy A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO) MESH:D054514 MIM:PS221900 NCI:C161554 ORDO:91495 Persistent Hyaloid Artery persistent fetal vasculature syndrome persistent hyaloid arteries persistent hyaloid vasculature persistent hyaloid vasculatures rgd_disease_ontology DOID:0060282 persistent hyperplastic primary vitreous A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO) https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO) GARD:7347 MESH:C564818 MIM:PS270300 ORDO:263543 ORDO:817 PSS deciduous skin familial continuous generalized skin peeling familial continuous skin peeling syndrome keratolysis exfoliativa congenita keratosis exfoliativa congenita peeling skin disease rgd_disease_ontology DOID:0060283 peeling skin syndrome A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO) https://rarediseases.org/rare-diseases/peeling-skin-syndrome/ An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO) MIM:615749 C5-RELATED CONDITION GARD:7337 ICD10CM:D59.5 ICD10CM:D59.6 MESH:D006457 MIM:PS300818 NCI:C61233 ORDO:447 Marchiafava Micheli Syndrome cold paroxysmal hemoglobinuria paroxysmal hemoglobinuria rgd_disease_ontology ECULIZUMAB, POOR RESPONSE TO DOID:0060284 paroxysmal nocturnal hemoglobinuria An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO) https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO) MESH:C566826 MIM:PS168500 MONDO:0018953 ORDO:60015 Caitlin marks Catlin marks Cranium Bifidum Occultum Cranium Bifidum, Hereditary Enlarged Parietal Foramina FPP PFM foramina parietalia permagna symmetric parietal foramina rgd_disease_ontology DOID:0060285 parietal foramina An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO) https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO) rgd 2017-11-10T00:00:00Z GARD:12893 MIM:PS609060 rgd_disease_ontology DOID:0060286 combined oxidative phosphorylation deficiency A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO) https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO) rgd 2017-11-07T00:00:00Z MIM:PS121400 MONDO:0000733 ORDO:53691 flat cornea rgd_disease_ontology DOID:0060287 cornea plana A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO) https://disorders.eyes.arizona.edu/handouts/cornea-plana An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO) rgd 2017-11-09T00:00:00Z MIM:PS258315 MONDO:0017136 ORDO:2733 rgd_disease_ontology DOID:0060288 omodysplasia An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO) PMID:12210345 A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO) GARD:3348 MESH:C536232 MESH:C537838 MIM:249620 MONDO:0000734 ORDO:2728 Blepharophimosis Syndrome Ohdo Type Ohdo Blepharophimosis syndrome Ohdo-Madokoro-Sonoda syndrome mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality rgd_disease_ontology DOID:0060289 Ohdo syndrome A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO) PMID:16700052 A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO) KAT6B-RELATED DISORDER KAT6B-RELATED MULTIPLE CONGENITAL ANOMALIES SYNDROME KAT6B-related spectrum disorder KAT6B-related spectrum disorders autosomal dominant KAT6B-related disorders MESH:C536717 MIM:603736 MONDO:0011365 NCI:C206524 ORDO:3047 Ohdo Syndrome, Say-Barber-Biesecker Variant Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant SBBYS variant of Ohdo syndrome SBBYSS Say-Barber-Biesecker-Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome YSS Young Simpson syndrome blepharophimosis - intellectual disability syndrome blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type blepharophimosis-intellectual disability syndrome, SBBYS type mental retardation-unusual facies-hypothyroidism rgd_disease_ontology DOID:0060290 Ohdo syndrome, SBBYS variant A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO) PMID:22077973 https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO) MIM:164200 GARD:7239 MESH:C563160 ORDO:2710 ODD Syndrome ODDD ODOD Oculo-Dento-Osseous Dysplasia Oculodentodigital Syndrome Oculodentoosseous Dysplasia oculo-dento-digital dysplasia osseous-oculo-dental dysplasia rgd_disease_ontology DOID:0060291 oculodentodigital dysplasia A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO) PMID:12021949 http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO) rgd 2017-11-10T00:00:00Z MIM:302950 MIM:602497 ICD10CM:Q77.3 MESH:C580533 ORDO:35173 ORDO:79345 ARSL-RELATED DISORDER Brachytelephalangic Chondrodysplasia Punctata CDPX1 CPXR X-linked recessive chondrodysplasia punctata 1 arylsulfatase E deficiency chondrodystrophia calcificans congenita rgd_disease_ontology brachytelephalangic chondrodysplasia punctata, autosomal DOID:0060292 X-linked chondrodysplasia punctata 1 A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO) https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO) MESH:C563248 MIM:118650 ORDO:79344 chondrodysplasia punctata due to vitamin K deficiency chondrodysplasia punctata due to warfarin teratogenicity rgd_disease_ontology DOID:0060293 autosomal dominant chondrodysplasia punctata A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO) MIM:118650 A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO) rgd 2017-11-10T00:00:00Z MESH:C536214 MIM:PS272430 MONDO:0015526 ORDO:1545 ORDO:157820 CISS CNTF receptor-related disorders Crisponi syndrome Sohar-Crisponi syndrome cold-induced sweating tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death rgd_disease_ontology DOID:0060294 cold-induced sweating syndrome A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO) http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO) C2-related condition C2-related disorder GARD:1452 MIM:217000 MONDO:0009006 C2 DEFICIENCY C2D C2 DEFICIENCY, TYPE I C2 DEFICIENCY, TYPE II rgd_disease_ontology DOID:0060295 complement component 2 deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO) https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. (DO) SLC26A3-related condition MESH:C536210 MIM:214700 MONDO:0008964 ORDO:53689 DIAR1 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL Darrow-Gamble disease congenital chloride diarrhea congenital chloride diarrhea, Finnish type congenital chloride diarrhoea Finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1 congenital secretory diarrhoea, chloride type rgd_disease_ontology DOID:0060296 congenital secretory chloride diarrhea 1 A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. (DO) PMID:19861545 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO) MIM:614380 MESH:C565167 C4A Deficiency C4AD rgd_disease_ontology DOID:0060297 complement component 4A deficiency A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO) MIM:614380 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO) MIM:614379 ORDO:169147 C4B DEFICIENCY C4BD rgd_disease_ontology DOID:0060298 complement component 4B deficiency A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO) MIM:614379 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO) C6-RELATED CONDITION MESH:C567307 MIM:612446 MONDO:0012908 C6 Deficiency C6D C6 deficiency, subtotal complement component 6 deficiency, subtotal rgd_disease_ontology DOID:0060299 complement component 6 deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO) MIM:612446 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO) MIM:610102 MESH:C566443 ORDO:1695150 C7 deficiency C7-RELATED CONDITION C7D rgd_disease_ontology DOID:0060300 complement component 7 deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO) MIM:610102 A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO) MIM:613790 C8 ALPHA-GAMMA DEFICIENCY C8 deficiency type I C8A-RELATED CONDITION C8AG DEFICIENCY C8D1 rgd_disease_ontology complement component 8, alpha subunit, A/B polymorphism DOID:0060301 type I complement component 8 deficiency A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO) https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO) MIM:613789 MONDO:0013421 C8 BETA DEFICIENCY C8 deficiency type II C8B deficiency C8B-RELATED CONDITION C8D2 complement component 8B deficiency rgd_disease_ontology DOID:0060302 type II complement component 8 deficiency A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO) https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO) C9-related condition ICD10CM:D84.1 MESH:C565165 MIM:613825 MONDO:0013445 ORDO:169150 C9 deficiency C9D rgd_disease_ontology DOID:0060303 complement component 9 deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO) MIM:613825 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO) GARD:1996 MESH:C535730 MIM:PS127500 MONDO:0000736 NCI:C173131 ORDO:241 rgd_disease_ontology DOID:0060304 dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO) PMID:12372090 http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO) CHRDL1-related condition MESH:C562829 MIM:249300 MIM:309300 MONDO:0009576 ORDO:91489 MGC1 MGCN anterior megalophthalmos congenital anterior megalophthalmia ISOLATED CONGENITAL MEGALOCORNEA X-linked megalocornea 1 rgd_disease_ontology DOID:0060305 megalocornea A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO) PMID:6849653 http://en.wikipedia.org/wiki/Megalocornea http://ghr.nlm.nih.gov/gene/CHRDL1 A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO) GARD:2033 MESH:C538012 MIM:PS224690 ORDO:2554 EPS ear, patella, short stature syndrome microtia, absent patellae, micrognathia syndrome DONSON-RELATED MEIER-GORLIN SYNDROME rgd_disease_ontology DOID:0060306 Meier-Gorlin syndrome A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO) PMID:14564153 PMID:37059840 http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/ A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO) rgd 2017-11-10T00:00:00Z GARD:12107 MIM:PS156200 MONDO:0100172 ORDO:178469 autosomal dominant intellectual disability autosomal dominant mental retardation autosomal dominant non-syndromic intellectual disability autosomal dominant non-syndromic mental retardation rgd_disease_ontology DOID:0060307 autosomal dominant intellectual developmental disorder A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO) PMID:21124998 A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO) rgd 2017-11-10T00:00:00Z MIM:PS249500 ORDO:88616 autosomal recessive mental retardation autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic mental retardation rgd_disease_ontology DOID:0060308 autosomal recessive intellectual developmental disorder A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO) PMID:21124998 A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO) rgd 2017-11-10T00:00:00Z MIM:PS309510 syndromic X-linked mental retardation rgd_disease_ontology DOID:0060309 syndromic X-linked intellectual disability A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO) http://en.wikipedia.org/wiki/X-linked_intellectual_disability An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO) rgd 2017-11-10T00:00:00Z ICD10CM:K12.2 acute uvulitis rgd_disease_ontology DOID:0060310 uvulitis An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO) PMID:8285973 http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO) rgd 2017-11-10T00:00:00Z ICD10CM:J35.2 ICD9CM:474.12 MONDO:0000740 adenoidal hypertrophy enlarged adenoids rgd_disease_ontology DOID:0060311 adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO) PMID:21126775 http://en.wikipedia.org/wiki/Adenoid_hypertrophy http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO) rgd 2017-10-27T00:00:00Z NCI:C112198 angular cheilosis angular stomatitis cheilosis commissural cheilitis rgd_disease_ontology DOID:0060312 angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO) http://en.wikipedia.org/wiki/Angular_cheilitis A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO) ICD10CM:Q32.0 MESH:C557675 MESH:D055090 ORDO:95430 Chondromalacia of Trachea Congenital Tracheomalacia Trachea Chondromalacia Trachea Chondromalacias Tracheomalacias Type 1 tracheomalacia rgd_disease_ontology DOID:0060313 tracheomalacia A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO) http://en.wikipedia.org/wiki/Tracheomalacia A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO) rgd 2017-10-24T00:00:00Z PGL rgd_disease_ontology DOID:0060314 persistent generalized lymphadenopathy A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO) http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO) EFO:1001360 ICD10CM:K13.3 MESH:D017733 MONDO:0000743 NCI:C3722 hairy leukoplakia hairy leukoplakias oral hairy leukoplakias rgd_disease_ontology DOID:0060315 oral hairy leukoplakia A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO) http://en.wikipedia.org/wiki/Hairy_leukoplakia An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO) MESH:C537134 MIM:311200 MONDO:0010702 NCI:C75481 ORDO:2750 OFD1 OFDS I Papillon-Leage and Psaume syndrome Papillon-Leage-Psaume syndrome Papillon-League-Psaume syndrome oral facial digital syndrome, type I oral-facial-digital syndrome, type 1 orofaciodigital syndrome 1 orofaciodigital syndrome type I orofaciodigital syndrome type1 rgd_disease_ontology DOID:0060316 orofaciodigital syndrome I An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO) http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO) EFO:1001362 ICD10CM:J85.2 ICD9CM:513.0 MESH:D008169 NCI:C99090 Pulmonary Abscess lung abscesses pulmonary abscesses rgd_disease_ontology DOID:0060317 lung abscess A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO) http://en.wikipedia.org/wiki/Lung_abscess An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO) EFO:0000224 GARD:538 ICD10CM:C92.4 MESH:D015473 MIM:612376 MONDO:0012883 NCI:C208352 ORDO:520 AML M3 APL M3 ANLL acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia, M3 acute promyelocytic leukaemia acute promyelocytic leukemias progranulocytic leukemia rgd_disease_ontology DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE DOID:0060318 acute promyelocytic leukemia An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO) http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO) EFO:0009492 ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 Asystole Cardiopulmonary Arrest asystoles circulatory arrest heart arrest rgd_disease_ontology DOID:0060319 cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO) http://en.wikipedia.org/wiki/Cardiac_arrest http://www.nlm.nih.gov/medlineplus/cardiacarrest.html An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO) ICD10CM:K40 ICD10CM:K40.90 ICD9CM:550 MESH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 Direct Inguinal Hernia Direct Inguinal Hernias Indirect Inguinal Hernia Indirect Inguinal Hernias Inguinal Hernias rgd_disease_ontology DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO) http://en.wikipedia.org/wiki/Inguinal_hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO) ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 ORDO:660 umbilical hernias rgd_disease_ontology DOID:0060321 umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO) http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 https://en.wikipedia.org/wiki/Umbilical_hernia A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO) ICD10CM:H70.9 ICD9CM:383.9 MESH:D008417 NCI:C128368 mastoiditides rgd_disease_ontology DOID:0060322 mastoiditis A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO) http://en.wikipedia.org/wiki/Mastoiditis http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm A breast disease characterized by a collection of pus in the breast. (DO) rgd 2017-11-06T00:00:00Z rgd_disease_ontology DOID:0060323 breast abscess A breast disease characterized by a collection of pus in the breast. (DO) http://en.wikipedia.org/wiki/Mastitis#Breast_abscess A tooth disease characterized by a localized collection of pus associated with a tooth. (DO) rgd 2017-10-31T00:00:00Z ICD10CM:K04.6 rgd_disease_ontology DOID:0060324 dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. (DO) http://en.wikipedia.org/wiki/Dental_abscess A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO) EFO:0009475 ICD10CM:D26.9 ICD9CM:219 rgd_disease_ontology DOID:0060325 cervical polyp A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO) http://en.wikipedia.org/wiki/Cervical_polyp A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO) EFO:1001369 ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 Acquired Myelomeningocele Meningomyeloceles acquired meningomyelocele acquired meningomyeloceles acquired myelomeningoceles meningomyelocele myelocele myeloceles myelomeningoceles rgd_disease_ontology DOID:0060326 myelomeningocele A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO) http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO) rgd 2017-10-25T00:00:00Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D000099245 MIM:164750 MIM:310980 MONDO:0019015 NCI:C98997 ORDO:660 exomphalos omphalocoele rgd_disease_ontology DOID:0060327 omphalocele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO) http://en.wikipedia.org/wiki/Omphalocele http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO) ICD10CM:K60.3 MESH:D012003 MONDO:0000754 ORDO:228113 rectal fistula rgd_disease_ontology DOID:0060328 anal fistula An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO) http://en.wikipedia.org/wiki/Anal_fistula A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO) GARD:6318 ICD10CM:O00 ICD9CM:633 MESH:D011271 MONDO:0000755 NCI:C34945 eccyesis ectopic pregnancies extrauterine pregnancies extrauterine pregnancy rgd_disease_ontology DOID:0060329 ectopic pregnancy A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO) http://en.wikipedia.org/wiki/Ectopic_pregnancy http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO) GARD:5690 MESH:C535289 MIM:129400 MONDO:0007508 ORDO:3022 RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type OFC8 nonsyndromic cleft lip with or without cleft palate, 8 rgd_disease_ontology DOID:0060330 Rapp-Hodgkin syndrome An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO) PMID:28584763 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO) MIM:614052 GARD:12965 MESH:C567528 ORDO:1194 MC5DN2 mitochondrial complex V (ATP synthase) deficiency, TMEM70 type neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 rgd_disease_ontology DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO) MIM:614052 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO) MIM:614053 ATP5F1E-RELATED CONDITION ATP6V0A4-RELATED CONDITION DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX MC5DN3 mitochondrial complex V (ATP synthase) deficiency, ATP5E type rgd_disease_ontology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO) PMID:20566710 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO) ATP5F1A-RELATED CONDITION MC5DN4 mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type rgd_disease_ontology DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO) PMID:23599390 PMID:34954817 A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO) rgd 2017-11-10T00:00:00Z EFO:0020032 EFO:0020040 GARD:1839 MONDO:0020525 ORDO:99886 DMTN TNDM TRANSITORY NEONATAL DIABETES MELLITUS autosomal recessive transient neonatal diabetes mellitus transient neonatal diabetes, dominant transient neonatal diabetes, dominant/recessive transient neonatal diabetes, recessive rgd_disease_ontology DOID:0060334 transient neonatal diabetes mellitus A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO) PMID:17349054 http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO) MIM:182170 HSPA9-RELATED CONDITION MESH:C567160 AUTOSOMAL DOMINANT SIDEROBLASTIC ANEMIA SIDBA4 sideroblastic anemia 4 rgd_disease_ontology DOID:0060335 autosomal dominant sideroblastic anemia 4 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO) http://en.wikipedia.org/wiki/Sideroblastic_anemia An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO) ICD10CM:E71.111 MESH:C579867 MIM:PS250950 MONDO:0017359 ORDO:289902 3mga (3-Methylglutaconic Aciduria) rgd_disease_ontology DOID:0060336 3-methylglutaconic aciduria An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO) https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO) SNAP29-related condition MESH:C537943 MIM:609528 MONDO:0012290 ORDO:66631 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome rgd_disease_ontology DOID:0060337 CEDNIK syndrome A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO) PMID:21073448 An embryonal rhabdomyosarcoma located in the parameningeal region. (DO) rgd 2017-10-31T00:00:00Z rgd_disease_ontology DOID:0060338 parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. (DO) PMID:10717216 PMID:23021437 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO) SGO1-related condition MIM:616201 MONDO:0014528 ORDO:435988 CAID CAID syndrome rgd_disease_ontology DOID:0060339 chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO) PMID:25282101 A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO) EFO:0003900 MESH:D000072661 ORDO:363250 ciliopathies rgd_disease_ontology DOID:0060340 ciliopathy A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO) PMID:18178628 PMID:21210154 http://en.wikipedia.org/wiki/Ciliopathy A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO) MIM:202650 ICD10CM:Q18.2 MESH:C537996 MESH:C562503 ORDO:990 AGOTC PRRX1-RELATED CONDITION agnathia-holoprosencephaly agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex dysgnathia complex, agnathia-holoprosencephaly otocephaly rgd_disease_ontology DOID:0060341 agnathia-otocephaly complex A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO) PMID:17438667 A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12. (DO) ZSWIM6-related condition GARD:5539 MESH:C566345 MIM:603671 MONDO:0011359 ORDO:1827 AFND Toriello syndrome rgd_disease_ontology DOID:0060342 acromelic frontonasal dysostosis A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations and that has_material_basis_in heterozygous mutation in the ZSWIM6 gene on chromosome 5q12. (DO) PMID:15264282 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO) rgd 2017-09-13T00:00:00Z MONDO:0000757 rgd_disease_ontology steroid-induced osteoporosis DOID:0060343 glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO) PMID:17566815 PMID:22870429 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO) rgd 2017-10-23T00:00:00Z EFO:1000665 ICD9CM:701.8 Herxheimer disease primary diffuse atrophy rgd_disease_ontology DOID:0060344 acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO) http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans http://www.dermis.net/dermisroot/en/35111/diagnose.htm A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO) MESH:D016917 NCI:C3477 Bacillary Epithelioid Angiomatoses Bacillary Epithelioid Angiomatosis Epithelioid Angiomatoses bacillary angiomatoses epithelioid angiomatosis rgd_disease_ontology DOID:0060345 bacillary angiomatosis A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO) PMID:9407154 http://en.wikipedia.org/wiki/Bacillary_angiomatosis A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO) GARD:8432 MESH:C538343 MIM:255995 MONDO:0009722 ORDO:168572 Bailey-Bloch congenital myopathy Baily-Bloch congenital myopathy CMYO13 CMYP13 MYPBB NAM Native American myopathy STAC3 disorder STAC3-related disorder congenital myopathy cleft palate and malignant hyperthermia congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia congenital myopathy, with cleft palate and malignant hyperthermia rgd_disease_ontology DOID:0060346 congenital myopathy 13 A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO) PMID:18553514 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO) MIM:102520 MESH:C563159 ORDO:971 rgd_disease_ontology DOID:0060347 acrorenal syndrome A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO) PMID:26019842 A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO) MIM:241410 GARD:411 MESH:C537157 NCI:C133727 ORDO:2323 HRD syndrome HRDS Hypoparathyroidism with short stature, mental retardation, and seizures Sanjad-Sakati syndrome congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay rgd_disease_ontology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO) PMID:15645691 PMID:24339556 A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO) MESH:C537711 MIM:152950 MONDO:0007918 ORDO:2526 CDMMR syndrome KIF11-RELATED CONDITION MCLMR MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA OR INTELLECTUAL DISABILITY (MCLID) MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR INTELLECTUAL DISABILITY MLCRD syndrome chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema and retinal folds with microcephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome lymphedema, microcephaly, chorioretinopathy syndrome microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant microcephaly lymphedema chorioretinal dysplasia microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development microcephaly, lymphedema, chorioretinal dysplasia syndrome rgd_disease_ontology DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO) PMID:10482868 PMID:11302131 PMID:25124931 PMID:5936364 A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO) MIM:614723 GARD:10666 GARD:546 MESH:C538228 NCI:C121564 ORDO:976 2,8-Dihydroxyadenine Urolithiasis 2,8-Dihydroxyadeninuria APRT Deficiency APRT-RELATED CONDITION APRTD DHA Crystalline Nephropathy Nephrolithiasis, DHA Urolithiasis, DHA rgd_disease_ontology DOID:0060350 adenine phosphoribosyltransferase deficiency A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO) PMID:20150536 PMID:22700886 PMID:8864750 http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO) TTC19-related condition MIM:615157 MONDO:0014063 MC3DN2 rgd_disease_ontology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO) PMID:21278747 http://www.omim.org/entry/615157 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO) DOID:0070075 EHMT1-related condition GARD:8672 ICD10CM:Q87.86 MESH:C563043 MIM:610253 MONDO:0027407 ORDO:261494 9q subtelomeric deletion syndrome 9q- syndrome 9q34 deletion syndrome 9q34.3 deletion syndrome 9q34.3 microdeletion syndrome KLEFS1 chromosome 9Q deletion syndrome chromosome 9q34.3 deletion syndrome rgd_disease_ontology DOID:0060352 Kleefstra syndrome 1 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO) PMID:15264279 PMID:16826528 PMID:21245904 https://en.wikipedia.org/wiki/9q34_deletion_syndrome An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO) POLR1A-RELATED CONDITION MIM:616462 AFDCIN Cincinnati type of acrofacial dysostosis rgd_disease_ontology DOID:0060353 acrofacial dysostosis Cincinnati type An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO) PMID:25913037 A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO) MIM:185070 MESH:C566108 ORDO:3204 thrombocytopathy, asplenia, and miosis rgd_disease_ontology DOID:0060354 Stormorken syndrome A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO) PMID:24619930 PMID:25577287 http://ghr.nlm.nih.gov/condition/stormorken-syndrome An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO) TUBA4A-related condition MIM:616208 MONDO:0014531 ALS 22 ALS22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 amyotrophic lateral sclerosis 22 with frontotemporal dementia amyotrophic lateral sclerosis 22 with or without frontotemporal dementia rgd_disease_ontology DOID:0060355 amyotrophic lateral sclerosis type 22 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO) MIM:616208 A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO) GARD:448 MESH:C535566 MIM:242840 MONDO:0009452 NCI:C138174 ORDO:1493 EPG5-RELATED CONDITION VICIS absent corpus callosum, cataract immunodeficiency immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum rgd_disease_ontology DOID:0060356 Vici syndrome A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO) PMID:21965116 PMID:23222957 https://en.wikipedia.org/wiki/Vici_syndrome A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO) SAR1B-related condition GARD:9683 MESH:C535460 MIM:246700 MONDO:0009528 ORDO:71 ANDD Anderson Syndrome Anderson disease CMRD Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells lipid transport defect of intestine rgd_disease_ontology DOID:0060357 chylomicron retention disease A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO) PMID:10521380 PMID:20920215 PMID:3430059 PMID:3792776 https://en.wikipedia.org/wiki/Chylomicron_retention_disease An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO) MIM:231680 ICD10CM:E71.313 MESH:D054069 NCI:C84907 ORDO:26791 ETHYLMALONIC-ADIPICACIDURIA Electron Transfer Flavoprotein Deficiency Ethylmalonic Adipic Aciduria Ethylmalonic-Adipic Acidurias MAD deficiency MADD MADD (multiple acyl-CoA dehydrogenase deficiency) electron transfer flavoprotein ubiquinone oxidoreductase deficiency multiple FAD dehydrogenase deficiency EMA GLUTARIC ACIDEMIA IIA ETFA DEFICIENCY ETFA deficiencies ETFB DEFICIENCY ETFB Deficiencies ETFDH DEFICIENCY ETFDH Deficiencies Electron Transfer Flavoprotein Beta Subunit Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency GA II GLUTARIC ACIDEMIA II GLUTARIC ACIDEMIA IIB GLUTARIC ACIDEMIA IIC GLUTARIC ACIDEMIA IIC, LATE-ONSET GLUTARIC ACIDEMIA TYPE 2C Glutaric Acidemia Type II Glutaric Acidemia, Type 2 Glutaric Aciduria II Glutaric Aciduria IIA Glutaric Aciduria IIB Glutaric Aciduria IIC Glutaric Aciduria Type 2 Glutaric Aciduria Type II MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE electron transfer flavoprotein alpha subunit deficiency rgd_disease_ontology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO) PMID:12815589 PMID:22580358 http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO) MIM:101120 GARD:115 MESH:C537227 ORDO:3128 ACPS III ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly type 3 acrocephalopolysyndactyly type III rgd_disease_ontology DOID:0060359 Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO) https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO) MIM:101840 RDO:0014709 EFO:1000708 MESH:C566323 rgd_disease_ontology DOID:0060360 hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO) PMID:16409913 A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO) rgd 2017-10-31T00:00:00Z ORDO:307967 punctate palmoplantar hyperkeratosis rgd_disease_ontology punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO) https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO) EFO:1000758 MESH:C535653 MIM:101850 MONDO:0007047 ORDO:38 PPKP3 acrokeratoelastoidosis of Costa collagenous plaques of hand and feet collagenous plaques of hands and feet palmoplantar keratoderma, punctate type 3 punctate palmoplantar hyperkeratosis type 3 rgd_disease_ontology DOID:0060362 punctate palmoplantar keratoderma type III A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO) https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO) GK-related condition MIM:307030 NCI:C124845 ORDO:408 DEFICIENCY OF GLYCEROL KINASE GK deficiency GK1 deficiency GKD hyperglycerolemia INBORN GLYCEROL KINASE DEFICIENCY rgd_disease_ontology DOID:0060363 glycerol kinase deficiency An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO) PMID:22427807 https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO) gthayman 2019-03-13T00:00:00Z WDR73-related condition MIM:251300 MONDO:0033005 GAMOS1 SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome rgd_disease_ontology DOID:0060364 Galloway-Mowat syndrome 1 true A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO) PMID:26123727 https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO) rgd 2017-05-04T00:00:00Z EDNRA-RELATED CONDITION MIM:616367 ORDO:443995 MFDA rgd_disease_ontology DOID:0060365 mandibulofacial dysostosis with alopecia A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO) PMID:25772936 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO) GARD:3318 MESH:C537255 MIM:PS235510 ORDO:2136 Hennekam Lymphangiectasia Lymphedema Syndrome Lymphangiectasies and lymphedema Hennekam type generalized lymphatic dysplasia lymphedem-lymphangiectasia-intellectual disability syndrome lymphedema-lymphangiectasia-intellectual disability syndrome rgd_disease_ontology DOID:0060366 Hennekam syndrome A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO) PMID:14564208 PMID:24870712 PMID:2624276 http://ghr.nlm.nih.gov/condition/hennekam-syndrome https://en.wikipedia.org/wiki/Hennekam_syndrome A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO) MESH:C566823 MIM:168601 MONDO:0008200 NCI:C198602 Lewy Body Parkinsonism PARK1 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY Parkinson Disease, Familial, Type 1 atypical Parkinson disease atypical Parkinson's disease autosomal dominant Parkinson disease autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease autosomal dominant Parkinson's disease 1 autosomal dominant Parkinson's disease 1, Lewy body familial Parkinson's disease, type 1 rgd_disease_ontology DOID:0060367 Parkinson's disease 1 A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO) PMID:22315721 http://www.omim.org/entry/168601 An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO) MIM:600116 MONDO:0010820 NCI:C198603 PARK2 Parkinson disease 2 Parkinson disease juvenile type 2 autosomal recessive Parkinson disease, early onset autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2 early onset Parkinsonism with diurnal fluctuation rgd_disease_ontology DOID:0060368 Parkinson's disease 2 An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO) PMID:22315721 An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO) MIM:605909 MESH:C565276 NCI:C184990 PARK6 PINK1-related parkinsonism Parkinson disease 6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1 PARKINSON'S DISEASE 6, EARLY-ONSET PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1 rgd_disease_ontology DOID:0060369 Parkinson's disease 6 An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO) PMID:22315721 An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO) MESH:C565238 MIM:606324 MONDO:0011658 NCI:C198606 PARK7 Parkinson disease 7 autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7 rgd_disease_ontology DOID:0060370 Parkinson's disease 7 An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO) PMID:22315721 A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO) MESH:C564631 MIM:607060 MONDO:0011764 NCI:C198605 LRRK2-RELATED CONDITION PARK8 Parkinson disease 8 autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8 rgd_disease_ontology DOID:0060371 Parkinson's disease 8 A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO) PMID:22315721 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO) MESH:C538104 MIM:260300 MONDO:009830 NCI:C198607 ORDO:171695 PARK15 PARKINSON DISEASE 15 PKPS Parkinson disease 15, autosomal recessive Parkinson's disease 15, autosomal recessive autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallido-pyramidal disease pallido-pyramidal syndrome pallidopyramidal syndrome parkinsonian-pyramidal syndrome rgd_disease_ontology DOID:0060372 Parkinson's disease 15 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO) PMID:22315721 An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO) MIM:258850 MESH:C557817 ORDO:2752 OFDS III Sugarman syndrome brachydactyly of the hands and feet with duplication of the first toes brachydactyly with major proximal phalangeal shortening oral-facial-digital syndrome 3 oral-facial-digital syndrome, type III orofaciodigital syndrome 3 rgd_disease_ontology DOID:0060373 orofaciodigital syndrome III An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO) https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO) MIM:258860 MESH:C537133 ORDO:2753 Baraitser-Burn syndrome Mohr-Majewski Syndrome OFD Syndrome, Baraitser-Burn Type OFD syndrome with tibial defects OFD4 OFDS IV oral-facial-digital syndrome, type IV orofacial-digital syndrome IV orofaciodigital syndrome 4 orofaciodigital syndrome with tibial dysplasia rgd_disease_ontology DOID:0060374 orofaciodigital syndrome IV An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO) https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO) MIM:174300 MESH:C557819 ORDO:2919 DDX59-RELATED CONDITION OFD5 OFDS V Thurston syndrome oral-facial-digital syndrome 5 oral-facial-digital syndrome, type V orofaciodigital syndrome 5 orofaciodigital syndrome Thurston type postaxial polydactyly with median cleft of upper lip rgd_disease_ontology DOID:0060375 orofaciodigital syndrome V An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO) PMID:23972372 https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 A Joubert syndrome that is characterized by orofaciodigital defect. (DO) CPLANE1-RELATED CONDITION GARD:4412 MESH:C536531 MIM:277170 MONDO:0010176 NCI:C124841 ORDO:2754 OFD6 OFDS VI OROFACIODIGITAL SYNDROME TYPE 6 Oral-Facial-Digital Syndrome, Type VI Orofaciodigital Syndrome VI Orofaciodigital syndrome 6 Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation Varadi Papp syndrome Varadi syndrome oral-facial-digital syndrome, type 6 polydactyly, cleft lip palate, psychomotor retardation rgd_disease_ontology DOID:0060376 Joubert syndrome with orofaciodigital defect A Joubert syndrome that is characterized by orofaciodigital defect. (DO) PMID:23716954 An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO) MIM:608518 MESH:C563104 ORDO:90649 OFD7 OFDS VII Whelan syndrome oral-facial-digital syndrome, type VII orofaciodigital syndrome 7 rgd_disease_ontology DOID:0060377 orofaciodigital syndrome VII An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO) PMID:14598343 An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO) MIM:300484 GARD:4060 MESH:C557820 ORDO:2755 OFD syndrome 8 OFD8 OFDS 8 OFDS VIII oral-facial-digital syndrome 8 oral-facial-digital syndrome type 8 oral-facial-digital syndrome with hypoplastic epiglottis oral-facial-digital syndrome, Edwards type orofaciodigital syndrome 8 orofaciodigital syndrome, Edwards type rgd_disease_ontology DOID:0060378 orofaciodigital syndrome VIII An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO) https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO) rgd 2017-10-27T00:00:00Z rgd_disease_ontology DOID:0060379 acrofacial dysostosis A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO) https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO) MIM:165590 MESH:C563491 ORDO:2756 OFD10 Oral-Facial-Digital Syndrome with Fibular Aplasia oral-facial-digital syndrome, type X orofaciodigital syndrome 10 orofaciodigital syndrome with fibular aplasia rgd_disease_ontology DOID:0060380 orofaciodigital syndrome X An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO) PMID:8261648 An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO) MIM:612913 MESH:C557821 ORDO:141000 Gabrielli syndrome OFD11 OFDS XI Oral-Facial-Digital Syndrome with Skeletal Anomalies Oral-Facial-Digital Syndrome, Type XI oral-facial-digital syndrome 11 orofaciodigital syndrome 11 rgd_disease_ontology DOID:0060381 orofaciodigital syndrome XI An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO) https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO) GARD:10520 MESH:C557818 MIM:258865 MONDO:0009795 ORDO:141007 OFD9 OFDS IX oral facial digital syndrome, type IX oral-facial-digital syndrome 9 oral-facial-digital syndrome with retinal abnormalities orofaciodigital syndrome 9 orofaciodigital syndrome with retinal abnormalities orofaciodigital syndrome, type 9 rgd_disease_ontology DOID:0060382 orofaciodigital syndrome IX An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO) PMID:18000902 https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO) GARD:496 MESH:C538183 MIM:201170 MONDO:0008714 ORDO:1788 Rodriguez lethal acrofacial dysostosis syndrome acrofacial dysostosis syndrome of Rodriguez rgd_disease_ontology DOID:0060383 acrofacial dysostosis Rodriguez type An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO) https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO) GARD:494 MESH:C538182 MIM:101805 MONDO:0007045 ORDO:1786 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome acrofacial dysostosis, Catania form rgd_disease_ontology DOID:0060384 acrofacial dysostosis, Catania type An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO) https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO) MESH:C538185 MIM:601829 MONDO:0011154 ORDO:1787 Palagonia type of acrofacial dysostosis rgd_disease_ontology DOID:0060385 acrofacial dysostosis, Patagonia type An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO) PMID:9098488 A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO) rgd 2017-11-10T00:00:00Z MIM:PS610448 MONDO:0019557 ORDO:90280 Chilblain lupus erythematosus rgd_disease_ontology DOID:0060386 Chilblain lupus A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO) MIM:610448 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO) GARD:914 MESH:C537914 MIM:215045 MONDO:0008970 NCI:C131420 ORDO:50945 BOCD Blomstrand lethal chondrodysplasia Blomstrand lethal osteochondrodysplasia Blomstrand osteochondrodysplasia Blomstrand syndrome lethal congenital dwarfism with accelerated skeletal maturation rgd_disease_ontology DOID:0060387 chondrodysplasia Blomstrand type An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO) https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO) rgd 2017-09-14T00:00:00Z chromosome deletion syndrome rgd_disease_ontology DOID:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO) https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ https://www.ncbi.nlm.nih.gov/books/NBK23758/ A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO) MESH:C567385 MIM:612242 MONDO:0012830 ORDO:276413 rgd_disease_ontology DOID:0060389 chromosome 10q23 deletion syndrome A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO) PMID:21248748 A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO) MIM:609625 RDO:0015324 MESH:C567182 ORDO:96148 Terminal Chromosome 10q26 Deletion Syndrome chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q rgd_disease_ontology DOID:0060390 distal 10q deletion syndrome A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO) https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO) MIM:613884 MONDO:0013481 ORDO:1587 deletion 13q14 rgd_disease_ontology DOID:0060391 chromosome 13q14 deletion syndrome A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO) https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO) rgd 2017-09-14T00:00:00Z MIM:613457 ORDO:261120 14q11.2 microdeletion syndrome Zahir-Friedman syndrome rgd_disease_ontology DOID:0060392 chromosome 14q11-q22 deletion syndrome A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO) PMID:21744488 A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO) MIM:615656 MESH:C557830 ORDO:238446 ORDO:261183 15q11.2 microdeletion 15q11.2 microdeletion syndrome chromosome 15q11-q13 duplication syndrome duplication 15q11-q13 syndrome rgd_disease_ontology DOID:0060393 chromosome 15q11.2 deletion syndrome A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO) MIM:615656 A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO) MIM:612001 GARD:10296 MESH:C567439 ORDO:199318 15q13.3 microdeletion 15q13.3 microdeletion syndrome chromosome 15q13.3 deletion syndrome rgd_disease_ontology DOID:0060394 chromosome 15q13.3 microdeletion syndrome A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO) https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO) GARD:12219 MESH:C579849 MIM:613406 MONDO:0013256 ORDO:94065 15q24 deletion 15q24 microdeletion 15q24 microdeletion syndrome SIN3A-related condition SIN3A-related intellectual disability syndrome interstitial deletion of chromosome 15q24 SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO A POINT MUTATION rgd_disease_ontology DOID:0060395 chromosome 15q24 deletion syndrome A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO) MIM:613406 A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO) rgd 2017-09-14T00:00:00Z MIM:614294 rgd_disease_ontology DOID:0060396 chromosome 15q25 deletion syndrome A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO) https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO) MIM:612626 MESH:C567232 ORDO:1596 15q26 deletion syndrome Drayer Syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome rgd_disease_ontology DOID:0060397 chromosome 15q26-qter deletion syndrome A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO) PMID:18651844 A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO) rgd 2017-09-14T00:00:00Z MIM:613444 MONDO:0013267 NCI:C120408 ORDO:261222 chromosome 16p11.2 deletion syndrome distal 16p11.2 microdeletion syndrome rgd_disease_ontology DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO) PMID:20808231 A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO) rgd 2017-09-14T00:00:00Z MIM:136570 MONDO:0007631 NCI:C129875 chromosome 16p12.1 deletion syndrome, 520kb rgd_disease_ontology DOID:0060399 chromosome 16p12.1 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO) PMID:20154674 A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO) rgd 2017-09-14T00:00:00Z MIM:613604 MONDO:0013320 ORDO:261211 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome rgd_disease_ontology DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO) PMID:19449418 A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO) rgd 2017-09-14T00:00:00Z MIM:614541 ORDO:658540 rgd_disease_ontology DOID:0060401 chromosome 16q22 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO) PMID:1605249 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO) GARD:10996 MIM:613776 rgd_disease_ontology DOID:0060402 chromosome 17p13.1 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO) PMID:19617690 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO) MIM:613675 MIM:614192 ICD10CM:Q85.0 MESH:C563524 ORDO:97685 17q11 microdeletion syndrome MMFD NF1 microdeletion syndrome Van Asperen syndrome chromosome 17q11.2 deletion syndrome, 1.4Mb macrocephaly, macrosomia, and facial dysmorphism syndrome macrocephaly, macrosomia, facial dysmorphism syndrome neurofibromatosis type 1 microdeletion syndrome rgd_disease_ontology DOID:0060403 chromosome 17q11.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO) PMID:10631140 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO) rgd 2015-11-10T00:00:00Z GARD:13297 MIM:614527 MONDO:0013797 ORDO:261265 17q12 microdeletion syndrome rgd_disease_ontology DOID:0060404 chromosome 17q12 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO) https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO) rgd 2017-09-14T00:00:00Z GARD:10936 MIM:613355 ORDO:261279 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome rgd_disease_ontology DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO) PMID:20598276 A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO) GARD:8631 MESH:C538309 MIM:146390 MONDO:0007800 NCI:C84521 ORDO:1598 ORDO:261974 18p deletion syndrome 18p minus syndrome 18p- syndrome De Grouchy syndrome Del(18p) syndrome monosomy 18p rgd_disease_ontology DOID:0060406 chromosome 18p deletion syndrome A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO) PMID:16691587 A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO) MESH:C536580 MIM:601808 MONDO:0011147 ORDO:1600 ORDO:262146 18q syndrome DELETION OF LONG ARM OF CHROMOSOME 18 chromosome 18, monosomy 18Q chromosome 18q syndrome deletion 18q monosomy 18q monosomy 18q syndrome monosomy 18q, deletion 18q rgd_disease_ontology DOID:0060407 chromosome 18q deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO) https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO) MIM:613026 GARD:10592 MESH:C567810 ORDO:217346 19q13.11 microdeletion syndrome chromosome 19q13.11 deletion syndrome, distal monosomy 19q13.11 rgd_disease_ontology DOID:0060408 chromosome 19q13.11 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO) PMID:24243649 A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO) MIM:613735 NCI:C217084 ORDO:401986 BRMUTD NFIA-RELATED CONDITION brain malformations with or without urinary tract defects rgd_disease_ontology 1p31p32 microdeletion syndrome chromosome 1p32-p31 deletion syndrome DOID:0060409 NFIA-related disorder A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO) https://www.ncbi.nlm.nih.gov/books/NBK542336/ A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO) MIM:607872 GARD:6082 MESH:C535362 NCI:C74983 ORDO:1606 1p36 deletion syndrome 1p36.33 deletion chromosome 1, 1p36 deletion syndrome chromosome 1p36 deletion syndrome, distal deletion 1p36 monosomy 1p36 monosomy 1p36 syndrome rgd_disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO) https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO) MIM:612474 GARD:10813 MESH:C567291 ORDO:250989 1q21.1 Deletion 1q21.1 Microdeletion 1q21.1 contiguous gene deletion 1q21.1 microdeletion syndrome chromosome 1q21.1 deletion syndrome, 1.35-Mb rgd_disease_ontology monosomy 1q21.1 DOID:0060411 chromosome 1q21.1 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO) https://ghr.nlm.nih.gov/condition/1q211-microdeletion A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO) rgd 2017-09-14T00:00:00Z GARD:3738 MIM:612530 MONDO:0012927 ORDO:250999 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome rgd_disease_ontology DOID:0060412 chromosome 1q41-q42 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO) PMID:16736036 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO) MIM:611867 MESH:C567511 ORDO:261330 DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome rgd_disease_ontology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO) PMID:18179902 https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO) rgd 2017-09-14T00:00:00Z MIM:613564 rgd_disease_ontology DOID:0060414 chromosome 2p12-p11.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO) PMID:19764038 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO) MIM:612513 GARD:13391 ICD10CM:Q93.5 MESH:C567289 ORDO:261349 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome rgd_disease_ontology DOID:0060415 chromosome 2p16.1-p15 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO) PMID:26019277 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO) MIM:612345 MESH:C567344 rgd_disease_ontology DOID:0060416 chromosome 2q31.2 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO) PMID:19248183 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO) MIM:613792 MONDO:0013424 ORDO:1620 3p- syndrome chromosome 3pter-P25 deletion syndrome distal monosomy 3p rgd_disease_ontology DOID:0060417 3p deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO) PMID:19760623 https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO) MIM:615433 MESH:C536808 ORDO:1621 3q13 microdeletion syndrome chromosome 3, monosomy 3q13 deletion 3q13 monosomy 3q13 rgd_disease_ontology DOID:0060418 chromosome 3q13.31 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO) PMID:22180640 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO) MIM:609425 GARD:11974 MESH:C567184 ORDO:65286 3q subtelomere deletion syndrome 3q29 recurrent deletion 3qter deletion microdeletion 3q29 syndrome rgd_disease_ontology DOID:0060419 chromosome 3q29 microdeletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO) https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome https://www.ncbi.nlm.nih.gov/books/NBK385289/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO) rgd 2017-09-14T00:00:00Z MIM:613509 ORDO:238750 4q21 microdeletion syndrome monosomy 4q21 rgd_disease_ontology DOID:0060420 chromosome 4q21 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO) PMID:20522426 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO) rgd 2017-09-14T00:00:00Z MIM:615668 rgd_disease_ontology DOID:0060421 chromosome 5q12 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO) PMID:24203977 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO) MESH:C567239 MIM:612582 MONDO:0012948 ORDO:96125 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p rgd_disease_ontology DOID:0060422 chromosome 6pter-p24 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO) PMID:18629875 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO) rgd 2017-09-14T00:00:00Z MIM:613544 MONDO:0013299 rgd_disease_ontology DOID:0060423 chromosome 6q11-q14 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO) PMID:19213033 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO) rgd 2017-09-14T00:00:00Z MIM:612863 ORDO:251056 6q25 microdeletion syndrome monosomy 6q25 rgd_disease_ontology DOID:0060424 chromosome 6q24-q25 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO) PMID:17512813 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO) MIM:614230 MONDO:0013646 ORDO:284160 8q21.11 microdeletion syndrome rgd_disease_ontology DOID:0060425 chromosome 8q21.11 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO) PMID:21802062 A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO) rgd 2017-09-14T00:00:00Z MIM:613638 ORDO:357001 rgd_disease_ontology DOID:0060426 chromosome 19p13.13 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO) https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO) rgd 2017-09-14T00:00:00Z MIM:300679 ORDO:261476 Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21 rgd_disease_ontology DOID:0060427 chromosome Xp21 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO) PMID:17089405 A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO) MESH:C567350 MIM:612313 MONDO:0012864 ORDO:251019 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass Glass Syndrome SATB2 ASSOCIATED DISORDER SATB2-RELATED CONDITION SATB2-related disorder chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 rgd_disease_ontology DOID:0060428 SATB2-associated syndrome A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO) https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome https://www.ncbi.nlm.nih.gov/books/NBK458647/ A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO) MESH:D058674 chromosomal duplication chromosomal duplications chromosome duplication chromosome duplications rgd_disease_ontology DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO) https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO) rgd 2017-09-14T00:00:00Z GARD:12388 MIM:614671 MONDO:0013847 ORDO:370079 proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 rgd_disease_ontology DOID:0060430 chromosome 16p11.2 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO) https://ghr.nlm.nih.gov/condition/16p112-duplication A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO) rgd 2017-09-14T00:00:00Z MIM:613458 ORDO:96078 16p13.3 microduplication syndrome distal duplication 16p distal trisomy 16p telomeric duplication 16p rgd_disease_ontology DOID:0060431 chromosome 16p13.3 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO) PMID:19833603 A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO) MESH:C567705 MIM:613215 MONDO:0013182 ORDO:217385 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3 rgd_disease_ontology DOID:0060432 chromosome 17p13.3 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO) PMID:19136950 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO) rgd 2017-09-14T00:00:00Z GARD:13296 MIM:614526 MONDO:0013796 ORDO:261272 17q12 microduplication syndrome trisomy 17q12 rgd_disease_ontology DOID:0060433 chromosome 17q12 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO) https://ghr.nlm.nih.gov/condition/17q12-duplication https://www.ncbi.nlm.nih.gov/books/NBK344340/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO) rgd 2017-09-14T00:00:00Z ICD10CM:Q92.3 MIM:613533 ORDO:217340 17q21.31 microduplication syndrome trisomy 17q21.31 rgd_disease_ontology DOID:0060434 chromosome 17q21.31 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO) PMID:19502243 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO) MIM:612475 GARD:10591 MESH:C567290 ORDO:250994 1q21.1 microduplication syndrome trisomy 1q21.1 rgd_disease_ontology DOID:0060435 chromosome 1q21.1 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO) https://ghr.nlm.nih.gov/condition/1q211-microduplication A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO) MESH:C567224 MIM:608363 MONDO:0012020 ORDO:1727 22q11.2 duplication 22q11.2 microduplication syndrome chromosome 22q11.2 duplication syndrome trisomy 22q11.2 rgd_disease_ontology DOID:0060436 chromosome 22q11.2 microduplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO) https://ghr.nlm.nih.gov/condition/22q112-duplication A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO) rgd 2017-09-14T00:00:00Z MIM:615538 MONDO:0014235 rgd_disease_ontology DOID:0060437 chromosome 22q13 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO) PMID:24153177 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO) MESH:C535963 MIM:PS112240 NCI:C130985 ORDO:2050 bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features rgd_disease_ontology DOID:0060438 Cole-Carpenter syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO) PMID:10842295 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO) MIM:222700 GARD:3335 MESH:C562687 NCI:C121563 ORDO:470 RDO:0012291 Dibasic Amino Aciduria II Hyperdibasic Aminoaciduria LPI LPI - Lysinuric Protein Intolerance SLC7A7-RELATED CONDITION rgd_disease_ontology DOID:0060439 lysinuric protein intolerance An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO) PMID:1155480 http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance http://www.ncbi.nlm.nih.gov/books/NBK1361/ https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO) rgd 2017-10-31T00:00:00Z MONDO:0000763 rgd_disease_ontology DOID:0060440 epithelial and subepithelial dystrophy A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO) PMID:19236704 A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO) rgd 2017-10-31T00:00:00Z TGFBI-RELATED CONDITION RDO:9004323 rgd_disease_ontology DOID:0060441 epithelial-stromal TGFBI dystrophy A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO) https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm A corneal dystrophy that affects the corneal stroma. (DO) rgd 2017-10-31T00:00:00Z MONDO:0020213 ORDO:98626 rgd_disease_ontology DOID:0060442 stromal dystrophy A corneal dystrophy that affects the corneal stroma. (DO) PMID:19236704 A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO) rgd 2017-10-23T00:00:00Z MONDO:0000766 dystrophy of corneal endothelium endothelial dystrophy rgd_disease_ontology DOID:0060443 corneal endothelial dystrophy A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO) PMID:19236704 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO) MESH:C535474 MIM:607541 MONDO:0011855 ORDO:98963 ACD Avellino corneal dystrophy CDA CGD2 combined granular-lattice corneal dystrophies combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular and lattice corneal dystrophies granular corneal dystrophy type 2 granular corneal dystrophy type II granular-lattice (Avellino) corneal dystrophy rgd_disease_ontology DOID:0060444 granular corneal dystrophy 2 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO) MIM:607541 https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO) MIM:610048 MESH:C566452 ORDO:101068 CSCD DCN-RELATED CONDITION congenital hereditary stromal dystrophy congenital hereditary stromal dystrophy of the cornea congenital stromal dystrophy of the cornea decorin-associated congenital stromal corneal dystrophy dystrophia corneae parenchymatosa congenita rgd_disease_ontology DOID:0060445 congenital stromal corneal dystrophy A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO) https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy https://www.ncbi.nlm.nih.gov/books/NBK2690/ A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO) MIM:300779 ICD10CM:H18.5 MESH:C567587 ORDO:293621 XECD rgd_disease_ontology DOID:0060446 X-linked endothelial corneal dystrophy A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO) PMID:16490493 An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO) MIM:121820 TGFBI-RELATED CONDITION MESH:C535477 ORDO:98956 Cogan corneal dystrophy Corneal Dystrophy, Map-Dot-Fingerprint Type EBMD anterior basement membrane corneal dystrophy corneal dystrophy, Cogan type map-dot-fingerprint dystrophy of cornea microcystic corneal dystrophy microcystic dystrophy of the cornea rgd_disease_ontology DOID:0060447 epithelial basement membrane dystrophy An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO) PMID:16652336 A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO) MIM:121850 MESH:C563256 ORDO:98970 CFD FCD Francois-Neetens corneal dystrophy, speckled or flecked Francois-Neetens speckled corneal dystrophy PIKFYVE-RELATED CONDITION rgd_disease_ontology DOID:0060448 Fleck corneal dystrophy A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO) PMID:23288988 PMID:26396486 An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO) MIM:204870 MESH:C535480 NCI:C142805 ORDO:98957 CDGDL Corneal amyloidosis GDCD GDLD GELATINOUS DROPLIKE CORNEAL DYSTROPHY TACSTD2-RELATED CONDITION amyloid corneal dystrophy, Japanese type lattice corneal dystrophy type III lattice corneal dystrophy type3 lattice corneal dystrophy, type 3 primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea rgd_disease_ontology DOID:0060449 gelatinous drop-like corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO) PMID:10192395 An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO) MIM:620763 MESH:C567588 ORDO:98955 LECD band-shaped and whorled microcystic corneal epithelial dystrophy rgd_disease_ontology band-shaped and whorled microcystic DOID:0060450 Lisch epithelial corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO) PMID:11024418 PMID:37972748 An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO) GARD:9688 ICD10CM:H18.52 ICD9CM:371.51 MESH:D053559 MIM:PS122100 NCI:C84795 ORDO:98954 Juvenile Hereditary Epithelial Dystrophy MECD Meesman's corneal dystrophy Meesmann corneal dystrophies Meesmann corneal epithelial dystrophy Stocker-Holt dystrophy juvenile epithelial corneal dystrophy of Meesmann rgd_disease_ontology DOID:0060451 Meesmann corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO) https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO) MESH:C567546 MIM:612868 MONDO:0013027 ORDO:98971 PACD chromosome 12q21.33 deletion syndrome rgd_disease_ontology DOID:0060452 posterior amorphous corneal dystrophy A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO) PMID:27096414 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO) MESH:C535476 MIM:608470 MONDO:0012043 ORDO:98961 CDB1 CDRB RBCD REIS-BUCKLERS' CORNEAL DYSTROPHY Reis-Bucklers dystrophy anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer, type 1 corneal dystrophy of Bowman layer, type I corneal dystrophy, Reis-Bucklers type geographic corneal dystrophy granular corneal dystrophy type III rgd_disease_ontology DOID:0060453 Reis-Bucklers corneal dystrophy An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO) MIM:608470 An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO) MIM:612867 MESH:C567547 ORDO:98959 SMCD rgd_disease_ontology DOID:0060454 subepithelial mucinous corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO) PMID:8352693 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO) MIM:602082 MESH:C535942 ORDO:98960 CDB2 CDTB TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer, type II corneal dystrophy of the Bowman layer, type 2 corneal dystrophy, Thiel-Behnke type rgd_disease_ontology DOID:0060455 Thiel-Behnke corneal dystrophy An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO) MIM:602082 A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO) MIM:121800 GARD:9277 MESH:C535475 ORDO:98967 SCCD Schnyder crystalline corneal dystrophy corneal dystrophy crystalline of Schnyder crystalline stromal dystrophy hereditary crystalline stromal dystrophy of Schnyder rgd_disease_ontology DOID:0060456 Schnyder corneal dystrophy A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO) PMID:23169578 A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO) rgd 2017-10-20T00:00:00Z MIM:PS122000 ORDO:98973 PPCD Schlichting dystrophy hereditary polymorphus posterior corneal dystrophy rgd_disease_ontology DOID:0060457 posterior polymorphous corneal dystrophy A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO) https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO) rgd 2017-09-14T00:00:00Z MIM:613681 MONDO:0013363 ORDO:294026 rgd_disease_ontology DOID:0060458 chromosome 2q31.1 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO) PMID:20577005 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO) GARD:10360 MESH:C567626 MIM:611936 ORDO:251038 3q29 microduplication chromosome 3q29 duplication syndrome microduplication 3q29 syndrome trisomy 3q29 rgd_disease_ontology DOID:0060459 chromosome 3q29 microduplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO) https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO) MIM:613174 MESH:C567717 ORDO:329802 5p13 microduplication syndrome trisomy 5p13 rgd_disease_ontology DOID:0060460 chromosome 5p13 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO) PMID:19052029 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO) ICD10CM:Q99.8 MESH:C567585 MIM:300801 ORDO:217377 microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 rgd_disease_ontology DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO) PMID:19716111 An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO) GARD:1818 MESH:C535943 MIM:PS251450 NCI:C124056 ORDO:1425 Desbuquois Syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois dysplasia, Kim variant rgd_disease_ontology DOID:0060462 Desbuquois dysplasia An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO) PMID:19853239 PMID:21037275 A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO) rgd 2017-09-21T00:00:00Z BRD4-RELATED CONDITION EFO:0005783 NCI:C45716 ORDO:443167 nuclear protein in testis midline carcinoma rgd_disease_ontology DOID:0060463 NUT midline carcinoma A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO) PMID:21221870 PMID:25685583 PMID:26378054 PMID:26402248 https://en.wikipedia.org/wiki/NUT_midline_carcinoma A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO) GARD:8407 MESH:C537734 MIM:PS164280 ORDO:1305 Brunner Winter syndrome FGLDS MMT syndrome MODED MODED syndrome Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome ODED ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly and digital abnormalities with normal intelligence microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome oculo-digito-esophagoduodental (ODED) syndrome oculodigitoesophagoduodenal syndrome rgd_disease_ontology DOID:0060464 Feingold syndrome A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO) PMID:14518066 PMID:16906565 http://ghr.nlm.nih.gov/condition/feingold-syndrome https://en.wikipedia.org/wiki/Feingold_syndrome An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO) GARD:2321 MESH:C562524 MIM:PS228520 ORDO:2021 rgd_disease_ontology DOID:0060465 fibrochondrogenesis An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO) https://ghr.nlm.nih.gov/condition/fibrochondrogenesis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO) MESH:D005351 MIM:PS135300 ORDO:2024 fibromatosis gingivae gingival fibromatoses hereditary gingival fibromatosis hereditary gingival hyperplasia rgd_disease_ontology DOID:0060466 gingival fibromatosis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO) PMID:11868160 PMID:17385395 A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO) MIM:143050 MIM:236400 GARD:2748 MESH:C535284 ORDO:3265 Ramer Ladda syndrome humero-radial fusion humero-radial synostosis rgd_disease_ontology DOID:0060467 humeroradial synostosis A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO) https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO) MIM:142900 MIM:314600 GARD:6666 ICD10CM:Q87.2 MESH:C535326 NCI:C125592 ORDO:3456 ORDO:392 Atrio-Digital Syndrome Cardiac-Limb Syndrome Cervico-Oculo-Acoustic Syndrome CervicoOculoAcoustic Syndrome HOS HOS1 Heart-Hand Syndrome, Type 1 Heart-hand syndrome TBX5-RELATED CONDITION Wildervanck syndrome atriodigital dysplasia ventriculo-radial syndrome rgd_disease_ontology DOID:0060468 Holt-Oram syndrome A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO) PMID:12223419 PMID:12436037 http://ghr.nlm.nih.gov/condition/holt-oram-syndrome https://en.wikipedia.org/wiki/Holt-Oram_syndrome A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO) rgd 2017-10-27T00:00:00Z ICD10CM:Q93.88 MIM:247200 MONDO:0009532 NCI:C124852 ORDO:531 MDCR MDLS MDS MDS chromosome 17p13.3 deletion syndrome Miller-Dieker lissencephaly Miller-Dieker syndrome Miller-Dieker syndrome chromosome region chromosome 17p13.3 deletion syndrome rgd_disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO) PMID:21239872 PMID:9473821 http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome https://en.wikipedia.org/wiki/Miller-Dieker_syndrome A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO) MIM:609056 MESH:C563799 NCI:C206525 ORDO:370933 ORDO:370938 Amish infantile epilepsy syndrome GM3 Synthase Deficiency INFANTILE EPILEPSY SYNDROME SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME SPDRS infantile-onset symptomatic epilepsy syndrome salt & pepper syndrome salt and pepper mental retardation syndrome rgd_disease_ontology DOID:0060470 salt and pepper syndrome A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO) PMID:24026681 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO) MESH:C536525 MIM:609442 MONDO:0012275 NCI:C98930 ORDO:1906 Valproic Acid Antenatal Infection fetal effects from dalpro fetal effects from epival fetal valproic acid syndrome fetal valproic syndrome foetal valproate syndrome foetal valproic acid syndrome valproic acid embryopathy rgd_disease_ontology DOID:0060471 fetal valproate syndrome A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO) PMID:17090909 PMID:25400349 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO) MIM:173650 GARD:4391 MESH:C536321 ORDO:2908 ORDO:306539 Bullous acrokeratotic poikiloderma of kindler and weary Congenital bullous poikiloderma FERMT1-RELATED CONDITION KNDLRS Kindler's syndrome Poikiloderma, congenital, with bullae, weary type Poikiloderma, hereditary acrokeratotic hereditary acrokeratotic poikiloderma of Kindler-Weary poikiloderma of Kindler rgd_disease_ontology DOID:0060472 Kindler syndrome A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO) PMID:12668616 https://en.wikipedia.org/wiki/Kindler_syndrome A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO) GARD:6810 ICD10CM:Q89.81 MESH:C537705 MIM:PS147920 MONDO:0016512 NCI:C124837 ORDO:2322 KMS Kabuki make up syndrome Kabuki makeup syndrome Niikawa-Kuroki syndrome rgd_disease_ontology DOID:0060473 Kabuki syndrome A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO) PMID:25281733 PMID:25972376 PMID:26512256 http://ghr.nlm.nih.gov/condition/kabuki-syndrome https://en.wikipedia.org/wiki/Kabuki_syndrome A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO) MIM:263400 MESH:C563918 ORDO:238557 Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis familial erythrocytosis 2, autosomal recessive polycythemia, VHL-dependent rgd_disease_ontology DOID:0060474 familial erythrocytosis 2 A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO) PMID:15725900 An generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO) DOID:9002731 SLC6A1-related condition SLC6A1-related neurodevelopmental condition SLC6A1-related neurodevelopmental disorder MIM:616421 MONDO:0014633 NCI:C165674 NCI:C172100 ORDO:1942 EEOC ELS EPILEPSY WITH MYOCLONIC ATONIC SEIZURES IECEE MAE childhood onset epileptic encephalopathy early life seizures early onset epileptic encephalopathy generalized myoclonic-atonic seizure infantile or early childhood epileptic encephalopathy myoclonic-atonic seizure infantile epileptic encephalopathy infantile spasm undetermined early-onset epileptic encephalopathy rgd_disease_ontology DOID:0060475 myoclonic-atonic epilepsy An generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO) PMID:23708187 PMID:24207121 https://www.ncbi.nlm.nih.gov/books/NBK589173/ A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO) MIM:267000 GARD:3936 MESH:C536399 NCI:C103144 ORDO:2849 DIS3L2-RELATED CONDITION PRLMNS nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis, and fetal gigantism PREDISPOSITION TO WILMS TUMOR rgd_disease_ontology DOID:0060476 Perlman syndrome A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO) PMID:18780370 PMID:22306653 https://en.wikipedia.org/wiki/Perlman_syndrome A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO) GARD:12894 ICD10CM:A92.5 MESH:D000071243 MONDO:0018661 NCI:C128423 ORDO:448237 Zika virus disease Zika virus infection rgd_disease_ontology DOID:0060478 Zika fever A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO) https://en.wikipedia.org/wiki/Zika_fever https://www.cdc.gov/zika/about/ https://www.ecdc.europa.eu/en/zika-virus-disease https://www.ncbi.nlm.nih.gov/books/NBK430981/ https://www.who.int/news-room/fact-sheets/detail/zika-virus A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO) DOID:0080023 SBDS-RELATED CONDITION GARD:4863 MESH:D000081003 MIM:260400 MIM:PS260400 MONDO:0009833 NCI:C61235 ORDO:811 SDS SDS1 SHWACHMAN–DIAMOND SYNDROME Shwachman syndrome Shwachman-Bodian syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond syndrome 1 Shwachman-Diamond type metaphyseal dysplasia Shwachman-Diamond-Oski syndrome congenital lipomatosis of pancreas metaphyseal chondrodysplasia, Shwachman type pancreatic insufficiency and bone marrow dysfunction rgd_disease_ontology DOID:0060479 Shwachman-Diamond syndrome A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO) PMID:18356737 PMID:22201042 http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO) EFO:0002632 EFO:0004686 GARD:10985 HP:0011664 MIM:PS604169 MONDO:0018901 ORDO:54260 LVNC left ventricular hypertrabeculation ncCM non-compaction cardiomyopathy rgd_disease_ontology DOID:0060480 left ventricular noncompaction An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO) PMID:16567565 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO) GARD:9849 MESH:C537279 MIM:609460 MONDO:0012280 ORDO:66629 GOSHS Goldberg-Shprintzen megacolon syndrome KIFBP-related disorder rgd_disease_ontology DOID:0060481 Goldberg-Shprintzen syndrome A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO) PMID:15883926 PMID:23427148 https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO) MIM:612109 MESH:C567416 ORDO:157962 HMX1-RELATED CONDITION OCACS SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear rgd_disease_ontology DOID:0060482 oculoauricular syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO) PMID:18423520 PMID:25574057 A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO) MIM:609313 MESH:C563739 ORDO:171851 AP1S1-RELATED CONDITION EKV3 MEDNIK erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma rgd_disease_ontology DOID:0060483 MEDNIK syndrome A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO) PMID:23423674 PMID:24754424 A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO) KCNJ10-related disorder KCNJ10-related disorders MESH:C557674 MIM:612780 MONDO:0013005 OMIA:002089 ORDO:199343 SESAMES SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance cerebellar ataxia, KCNJ10-related rgd_disease_ontology SESAME-like syndrome DOID:0060484 EAST syndrome A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO) PMID:19289823 PMID:19420365 PMID:23471908 A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO) MIM:235730 GARD:9673 MESH:C536990 NCI:C74999 ORDO:2152 Hirschsprung disease mental retardation syndrome MOWS ZEB2-RELATED CONDITION microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease Hirschsprung disease-mental retardation syndrome, late infantile rgd_disease_ontology DOID:0060485 Mowat-Wilson syndrome A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO) PMID:17958891 PMID:23466526 https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO) MIM:168605 GARD:10453 MESH:C566822 ORDO:178509 parkinsonism with alveolar hypoventilation and mental depression rgd_disease_ontology DOID:0060486 Perry syndrome A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO) http://www.ncbi.nlm.nih.gov/books/NBK47027/ https://ghr.nlm.nih.gov/condition/perry-syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO) TCF4-RELATED CONDITION GARD:4372 MESH:C537403 MIM:610954 MONDO:0012589 NCI:C129872 ORDO:2896 PTHS severe epileptic encephalopathy, with autonomic dysfunction syndromal mental retardation, with intermittent hyperventilation rgd_disease_ontology Pitt-Hopkins-like syndrome DOID:0060488 Pitt-Hopkins syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO) PMID:17436255 PMID:26621827 PMID:728011 http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO) MIM:242900 GARD:4984 MESH:C536629 NCI:C135087 ORDO:1830 SIOD SMARCAL1-RELATED DISORDER Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome rgd_disease_ontology DOID:0060490 Schimke immuno-osseous dysplasia A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO) PMID:10653321 http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia http://www.ncbi.nlm.nih.gov/books/NBK1376/ A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO) MIM:609541 RDO:0012893 MESH:C563702 ORDO:320406 KLC2-RELATED CONDITION spastic paraplegia, optic atrophy, and neuropathy spastic paraplegia, optic atrophy, and neuropathy syndrome spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome rgd_disease_ontology DOID:0060491 SPOAN syndrome A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO) PMID:15852396 PMID:26385635 An egg allergy triggered by Gallus gallus eggs. (DO) rgd 2017-10-24T00:00:00Z Gallus gallus egg allergy rgd_disease_ontology DOID:0060492 chicken egg allergy An egg allergy triggered by Gallus gallus eggs. (DO) http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 https://en.wikipedia.org/wiki/Egg_allergy A food allergy triggered by Crustacea or Mollusca. (DO) MESH:D000067208 shellfish allergies shellfish hypersensitivities shellfish hypersensitivity rgd_disease_ontology DOID:0060495 shellfish allergy A food allergy triggered by Crustacea or Mollusca. (DO) PMID:28027402 PMID:29858102 PMID:30893087 An allergic disease that is located_in the respiratory tract. (DO) MESH:D012130 airway allergy airway hyper responsiveness respiratory hypersensitivities respiratory hypersensitivity rgd_disease_ontology allergic lung disease DOID:0060496 respiratory allergy An allergic disease that is located_in the respiratory tract. (DO) PMID:25006500 PMID:28187789 A respiratory allergy triggered by pollen. (DO) rgd 2017-10-30T00:00:00Z pollen allergies rgd_disease_ontology DOID:0060497 pollen allergy A respiratory allergy triggered by pollen. (DO) https://acaai.org/allergies/types-allergies/pollen-allergy https://www.aafa.org/pollen-allergy/ A pollen allergy triggered by Phleum pratense pollen. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060498 Timothy grass allergy A pollen allergy triggered by Phleum pratense pollen. (DO) PMID:25685162 An autoimmune disease of central nervous system caused by an autoimmune response. (DO) rgd 2017-10-18T00:00:00Z RDO:9002713 rgd_disease_ontology DOID:0060499 autoimmune neuropathy An autoimmune disease of central nervous system caused by an autoimmune response. (DO) PMID:28601415 https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders An allergic disease that is triggered by a drug. (DO) EFO:0009482 MESH:D004342 MONDO:0000775 Drug Allergies Drug Hypersensitivities Drug Hypersensitivity rgd_disease_ontology DOID:0060500 drug allergy An allergic disease that is triggered by a drug. (DO) https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 An allergic disease that is triggered by a metal. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060501 metal allergy An allergic disease that is triggered by a metal. (DO) PMID:27228132 An allergic disease that is located_in the gastrointestinal tract. (DO) rgd 2017-10-19T00:00:00Z rgd_disease_ontology DOID:0060502 gastrointestinal allergy An allergic disease that is located_in the gastrointestinal tract. (DO) PMID:18721321 A food allergy triggered by a plant fruit product. (DO) rgd_disease_ontology DOID:0060503 fruit allergy A food allergy triggered by a plant fruit product. (DO) PMID:26022876 PMID:26549334 https://en.wikipedia.org/wiki/Fruit_allergy A fruit allergy triggered by Malus domestica plant fruit food product. (DO) Malus domestica fruit allergy rgd_disease_ontology DOID:0060504 apple allergy A fruit allergy triggered by Malus domestica plant fruit food product. (DO) PMID:26549334 PMID:29130794 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO) Prunus armeniaca fruit allergy rgd_disease_ontology DOID:0060505 apricot allergy A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO) PMID:30611476 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 A fruit allergy triggered by Prunus avium plant fruit food product. (DO) Prunus avium fruit allergy rgd_disease_ontology DOID:0060506 cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. (DO) PMID:26549334 PMID:30093847 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO) Ziziphus mauritiana fruit allergy rgd_disease_ontology DOID:0060507 Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO) PMID:14976388 PMID:24696647 https://en.wikipedia.org/wiki/Fruit_allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO) Citrus sinensis fruit allergy rgd_disease_ontology DOID:0060508 orange allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO) PMID:26549334 PMID:30099793 A fruit allergy triggered by Cucumis melo plant fruit food product. (DO) Cucumis melo fruit allergy rgd_disease_ontology DOID:0060509 melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. (DO) PMID:26549334 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 A fruit allergy triggered by Prunus persica plant fruit food product. (DO) Prunus persica fruit allergy rgd_disease_ontology DOID:0060510 peach allergy A fruit allergy triggered by Prunus persica plant fruit food product. (DO) PMID:30672059 A fruit allergy triggered by Prunus domestica plant fruit food product. (DO) Prunus domestica fruit allergy rgd_disease_ontology DOID:0060511 plum allergy A fruit allergy triggered by Prunus domestica plant fruit food product. (DO) http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO) rgd 2017-10-24T00:00:00Z Solanum lycopersicum fruit allergy rgd_disease_ontology DOID:0060512 tomato allergy A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO) PMID:12001794 PMID:23653972 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 A food allergy triggered by fish. (DO) rgd_disease_ontology DOID:0060513 fish allergy A food allergy triggered by fish. (DO) PMID:24795722 PMID:30323632 https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy A fish allergy triggered by Gadus morhua. (DO) Gadus morhua fish allergy rgd_disease_ontology DOID:0060514 Atlantic cod allergy A fish allergy triggered by Gadus morhua. (DO) PMID:24795722 PMID:30323632 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 A fish allergy triggered by Salmo salar. (DO) Salmo salar fish allergy rgd_disease_ontology DOID:0060515 Atlantic salmon allergy A fish allergy triggered by Salmo salar. (DO) PMID:24795722 PMID:30323632 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 A fish allergy triggered by Cyprinus carpio. (DO) Cyprinus carpio fish allergy rgd_disease_ontology DOID:0060516 carp allergy A fish allergy triggered by Cyprinus carpio. (DO) PMID:24795722 PMID:30323632 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 A fish allergy triggered by Danio rerio. (DO) Danio rerio allergy rgd_disease_ontology DOID:0060517 zebrafish allergy A fish allergy triggered by Danio rerio. (DO) https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy A fish allergy triggered by Oncorhynchus mykiss. (DO) rgd 2017-10-26T00:00:00Z Oncorhynchus mykiss allergy rgd_disease_ontology DOID:0060518 rainbow trout allergy A fish allergy triggered by Oncorhynchus mykiss. (DO) PMID:24795722 PMID:26111497 PMID:30323632 A drug allergy triggered by a beta-lactam. (DO) rgd 2017-10-27T00:00:00Z rgd_disease_ontology DOID:0060519 beta-lactam allergy A drug allergy triggered by a beta-lactam. (DO) PMID:31009700 https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy A beta-lactam allergy triggered by penicillin. (DO) rgd 2017-10-27T00:00:00Z rgd_disease_ontology DOID:0060520 penicillin allergy A beta-lactam allergy triggered by penicillin. (DO) https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 A milk allergy triggered by Bos taurus milk. (DO) rgd 2017-10-24T00:00:00Z Bos taurus milk allergy rgd_disease_ontology DOID:0060521 cow milk allergy A milk allergy triggered by Bos taurus milk. (DO) PMID:31083388 A milk allergy triggered by Capra hircus milk. (DO) rgd 2017-10-24T00:00:00Z Capra hircus milk allergy rgd_disease_ontology DOID:0060522 goat milk allergy A milk allergy triggered by Capra hircus milk. (DO) PMID:17002714 PMID:24372684 A shellfish allergy triggered by Mollusca. (DO) rgd_disease_ontology DOID:0060523 mollusc allergy A shellfish allergy triggered by Mollusca. (DO) PMID:28027402 PMID:29858102 PMID:30893087 A shellfish allergy triggered by Crustacea. (DO) rgd_disease_ontology DOID:0060524 crustacean allergy A shellfish allergy triggered by Crustacea. (DO) PMID:28027402 PMID:29858102 PMID:30893087 A crustacean allergy triggered by Farfantepenaeus aztecus. (DO) Farfantepenaeus aztecus allergy rgd_disease_ontology DOID:0060525 brown shrimp allergy A crustacean allergy triggered by Farfantepenaeus aztecus. (DO) PMID:28027402 PMID:29858102 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 A crustacean allergy triggered by Scylla paramamosain. (DO) Scylla paramamosain allergy green mud crab allergy rgd_disease_ontology DOID:0060526 crab allergy A crustacean allergy triggered by Scylla paramamosain. (DO) PMID:25728640 PMID:29858102 A crustacean allergy triggered by Fenneropenaeus indicus. (DO) Fenneropenaeus indicus allergy rgd_disease_ontology DOID:0060527 Indian prawn allergy A crustacean allergy triggered by Fenneropenaeus indicus. (DO) PMID:29858102 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 A crustacean allergy triggered by Penaeus monodon. (DO) Penaeus monodon allergy rgd_disease_ontology DOID:0060528 tiger prawn allergy A crustacean allergy triggered by Penaeus monodon. (DO) PMID:22135598 PMID:29178679 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 A crustacean allergy triggered by Litopenaeus vannamei. (DO) Litopenaeus vannamei allergy rgd_disease_ontology DOID:0060529 white shrimp allergy A crustacean allergy triggered by Litopenaeus vannamei. (DO) PMID:20471069 PMID:28027402 PMID:29858102 A mollusc allergy triggered by snails. (DO) rgd_disease_ontology DOID:0060530 snail allergy A mollusc allergy triggered by snails. (DO) PMID:15591808 http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 A snail allergy triggered by the horned turban snail. (DO) Turbo cornutus allergy rgd_disease_ontology DOID:0060531 horned turban snail allergy A snail allergy triggered by the horned turban snail. (DO) https://farrp.unl.edu/informallmollshellfish An allergic disease that is triggered by latex. (DO) MESH:D020315 Latex Hypersensitivities Latex Hypersensitivity Natural Rubber Latex Allergy Rubber Allergies Rubber Allergy Rubber Latex Allergies latex allergies rubber latex allergy rgd_disease_ontology DOID:0060532 latex allergy An allergic disease that is triggered by latex. (DO) PMID:27010091 https://en.wikipedia.org/wiki/Latex_allergy An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO) rgd 2017-09-12T00:00:00Z EFO:1000293 ICDO:8576/3 NCI:C66950 rgd_disease_ontology DOID:0060534 hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO) https://en.wikipedia.org/wiki/Adenocarcinoma A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO) DDX11-related condition GARD:13708 MIM:613398 MONDO:0013252 NCI:C164675 ORDO:280558 WABS rgd_disease_ontology DOID:0060535 Warsaw breakage syndrome A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO) PMID:20137776 PMID:21490908 PMID:23033317 PMID:26089203 PMID:31169992 https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO) GARD:3908 MESH:C537475 ORDO:2609 NADH-coenzyme Q reductase deficiency NADH:Q(1) oxidoreductase deficiency deficiency of mitochondrial NADH dehydrogenase component of complex I isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency mitochondrial oxidative phosphorylation disorder NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I rgd_disease_ontology DOID:0060536 mitochondrial complex I deficiency A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO) http://www.omim.org/entry/252010 A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO) GARD:5053 ICD10CM:G71.3 MESH:C565375 MIM:PS252011 MONDO:0031230 ORDO:3208 isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency succinate CoQ reductase deficiency rgd_disease_ontology DOID:0060537 mitochondrial complex II deficiency A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO) PMID:23322652 A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO) EFO:1001913 ICD10CM:D65 MESH:D055665 MONDO:0000809 ORDO:49566 purpura gangrenosa rgd_disease_ontology DOID:0060538 purpura fulminans A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO) ORDO:49566 PMID:26955583 https://en.wikipedia.org/wiki/Purpura_fulminans A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO) MIM:203300 HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS MESH:C538539 NCI:C150367 HPS1 HPS1-RELATED CONDITION albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells delta storage pool disease rgd_disease_ontology DOID:0060539 Hermansky-Pudlak syndrome 1 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO) MIM:203300 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO) MESH:C537709 MIM:608233 MONDO:0011997 NCI:C150368 ORDO:183678 ORDO:664500 HPS2 Hermansky-Pudlak syndrome with neutropenia Platelet defects and oculocutaneous albinism rgd_disease_ontology DOID:0060540 Hermansky-Pudlak syndrome 2 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO) MIM:608233 A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO) HPS3-related condition MIM:614072 MONDO:0013555 HPS3 rgd_disease_ontology DOID:0060541 Hermansky-Pudlak syndrome 3 A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO) MIM:614072 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO) HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS MIM:614073 HPS4 HPS4-RELATED CONDITION rgd_disease_ontology DOID:0060542 Hermansky-Pudlak syndrome 4 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO) MIM:614073 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO) MIM:614074 HPS5 HPS5-RELATED CONDITION rgd_disease_ontology DOID:0060543 Hermansky-Pudlak syndrome 5 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO) MIM:614074 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO) MIM:614075 NCI:C150369 HPS6 HPS6-RELATED CONDITION rgd_disease_ontology DOID:0060544 Hermansky-Pudlak syndrome 6 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO) MIM:614075 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO) MIM:614076 DTNBP1-RELATED CONDITION HPS7 rgd_disease_ontology DOID:0060545 Hermansky-Pudlak syndrome 7 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO) MIM:614076 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO) MIM:614077 MONDO:0013560 BLOC1S3-related condition HPS8 rgd_disease_ontology DOID:0060546 Hermansky-Pudlak syndrome 8 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO) MIM:614077 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO) BLOC1S6-related condition MIM:614171 MONDO:0013606 HPS9 rgd_disease_ontology DOID:0060547 Hermansky-Pudlak syndrome 9 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO) MIM:614171 A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO) rgd 2017-08-31T00:00:00Z breast tumor luminal luminal breast cancer NCI:C53554 luminal A breast cancer rgd_disease_ontology DOID:0060548 luminal breast carcinoma A A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO) GARD:819 MESH:C537908 MIM:209885 MONDO:0008853 ORDO:1231 BBRSAY BSS hypertrichosis, atrophic skin, ectropion, and macrostomia rgd_disease_ontology DOID:0060549 Barber-Say syndrome A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO) PMID:27196381 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO) MIM:200110 GARD:3 MESH:C535557 ORDO:920 AMS rgd_disease_ontology DOID:0060550 ablepharon macrostomia syndrome A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO) PMID:27196381 http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO) GARD:4085 MESH:C538345 MESH:C565820 MIM:604173 MONDO:0011405 NCI:C177535 ORDO:221046 Navajo immune deficient poikiloderma Navajo poikiloderma PN USB1-related condition poikiloderma with neutropenia, Clericuzio-type rgd_disease_ontology DOID:0060551 poikiloderma with neutropenia A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO) PMID:20734427 An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO) ATP13A2-RELATED CONDITION MESH:C537177 MIM:606693 MONDO:0011706 NCI:C203534 ORDO:306674 KRPPD KRS PARK9 Parkinson disease 9 Parkinson's disease 9 autosomal recessive Parkinson disease 9 autosomal recessive Parkinson disease 9, juvenile onset autosomal recessive Parkinson's disease 9, juvenile-onset pallidopyramidal degeneration with supranuclear upgaze paresis and dementia rgd_disease_ontology DOID:0060556 Kufor-Rakeb syndrome An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO) PMID:15986421 PMID:23791710 An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO) MIM:615217 MONDO:0014084 AOA3 PIK3R5-RELATED CONDITION ataxia with oculomotor apraxia type 3 rgd_disease_ontology DOID:0060557 ataxia-oculomotor apraxia 3 An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO) https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO) rgd 2017-11-03T00:00:00Z GARD:12643 ICD10CM:Q68.8 MIM:PS253310 MONDO:0017436 ORDO:294965 rgd_disease_ontology DOID:0060558 lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO) PMID:22610851 A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO) GLE1-RELATED CONDITION GLE1-RELATED DISORDER GARD:3227 MESH:C537194 MIM:253310 MONDO:0009670 ORDO:1486 LCCS LCCS1 LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE lethal autosomal recessive syndrome of multiple congenital contractures multiple contracture syndrome, Finnish type rgd_disease_ontology DOID:0060559 lethal congenital contracture syndrome 1 A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO) PMID:9683599 A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO) GARD:9177 MESH:C564369 MIM:607598 MONDO:0011868 ORDO:137776 LCCS2 multiple contracture syndrome, Israeli Bedouin type A multiple contracture syndrome, Israeli-Bedouin type rgd_disease_ontology DOID:0060560 lethal congenital contracture syndrome 2 A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO) PMID:15378541 PMID:17701904 true A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO) MESH:D000080038 MESH:D063748 MONDO:0000811 ALCAPA ALCAPA syndrome Bland White Garland syndrome White-Garland syndrome rgd_disease_ontology DOID:0060562 anomalous left coronary artery from the pulmonary artery A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO) https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO) MIM:169100 TFAP2B-RELATED CONDITION TFAP2B-RELATED CONGENITAL HEART DISEASE SPECTRUM DISORDER GARD:1237 MESH:C566815 ORDO:46627 CHAR Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits rgd_disease_ontology DOID:0060563 Char syndrome A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO) PMID:10368122 A bone disease that is located_in the spine. (DO) MESH:D013122 spinal diseases rgd_disease_ontology DOID:0060564 spinal disease A bone disease that is located_in the spine. (DO) https://en.wikipedia.org/wiki/Spinal_disease A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO) MESH:C535313 MIM:PS220210 ORDO:7 3C syndrome CCC dysplasia Craniocerebellocardiac dysplasia Dandy-Walker-like malformation with atrioventricular septal defect RTSC rgd_disease_ontology DOID:0060565 Ritscher-Schinzel syndrome A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO) https://en.wikipedia.org/wiki/3C_syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO) MESH:C535327 MIM:236110 MONDO:0009350 ORDO:2167 Holzgreve syndrome complex congenital heart defect, renal agenesis, and cleft lip and palate rgd_disease_ontology DOID:0060566 Holzgreve-Wagner-Rehder syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO) PMID:3232694 A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO) GARD:8653 ICD10CM:L95.1 MESH:C535509 MONDO:0019526 ORDO:90000 extracellular cholesterosis leukocytoclastic vasculitis rgd_disease_ontology DOID:0060567 erythema elevatum diutinum A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO) http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO) GARD:8585 MESH:C535572 MIM:239850 MONDO:0009406 ORDO:1517 Cantu syndrome hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome hypertrichotic osteochondrodysplasia rgd_disease_ontology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO) https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome https://ghr.nlm.nih.gov/condition/cantu-syndrome A tuberculosis located in the heart. (DO) EFO:1001442 MESH:D014381 cardiovascular tuberculoses cardiovascular tuberculosis rgd_disease_ontology DOID:0060570 cardiac tuberculosis A tuberculosis located in the heart. (DO) PMID:28814447 A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO) rgd 2017-10-27T00:00:00Z WASHC5-RELATED CONDITION MIM:220210 MONDO:0009073 RTSC1 rgd_disease_ontology DOID:0060571 Ritscher-Schinzel syndrome 1 A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO) PMID:24065355 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO) rgd 2015-12-08T00:00:00Z MIM:300963 CCDC22-RELATED CONDITION RTSC2 rgd_disease_ontology DOID:0060572 Ritscher-Schinzel syndrome 2 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO) PMID:24916641 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO) ICD10CM:D68.01 MESH:D056725 MIM:193400 MONDO:0008668 NCI:C131685 OMIA:001057 ORDO:166078 VWD, TYPE 1 VWD1 von Willebrand disease I von Willebrand disease type 1 von Willebrand disease type I rgd_disease_ontology von Willebrand disease type 1, susceptibility to DOID:0060573 von Willebrand's disease 1 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO) PMID:16889557 PMID:8456432 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO) MIM:613554 OMIA:001339 ICD10CM:D68.02 MESH:D056728 ORDO:166081 Type II von Willebrand Disease Type IIA von Willebrand Disease Type IIB von Willebrand Disease Type IIM von Willebrand Disease Type IIN von Willebrand Disease VWD type 2 VWD2 Von Willebrand disease II von Willebrand disease, type 2 VON WILLEBRAND NORMANDY VWD2A VWD2B VWD2M VWD2N von Willebrand disease, type 2A von Willebrand disease, type 2B von Willebrand disease, type 2M von Willebrand disease, type 2N rgd_disease_ontology VON WILLEBRAND FACTOR POLYMORPHISM DOID:0060574 von Willebrand's disease 2 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO) PMID:20409624 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO) MIM:257920 EFO:1001978 MESH:C537738 ORDO:2506 3MC1 MASP1-RELATED CONDITION Michels syndrome craniosynostosis with lid anomalies oculopalatoskeletal syndrome rgd_disease_ontology DOID:0060575 3MC syndrome 1 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO) MIM:257920 https://ghr.nlm.nih.gov/condition/3mc-syndrome A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO) MIM:265050 EFO:1001977 MESH:C535586 ORDO:2998 3MC2 COLEC11-RELATED CONDITION Carnevale Krajewska Fischetto syndrome Carnevale Syndrome OSA Syndrome oculo-skeletal-abdominal syndrome ptosis of eyelids with diastasis recti and hip dysplasia rgd_disease_ontology DOID:0060576 3MC syndrome 2 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO) MIM:265050 https://ghr.nlm.nih.gov/condition/3mc-syndrome A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO) MESH:C535704 MIM:248340 MONDO:0009554 ORDO:2453 3MC3 COLEC10-RELATED CONDITION Malpuech facial clefting syndrome Malpuech syndrome facial clefting syndrome, Gypsy type rgd_disease_ontology DOID:0060577 3MC syndrome 3 A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO) PMID:21258343 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO) rgd 2017-09-20T00:00:00Z MIM:163950 NS1 Noonan syndrome type 1 rgd_disease_ontology DOID:0060578 Noonan syndrome 1 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO) PMID:18203203 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO) Noonan syndrome, autosomal recessive MESH:C548081 MIM:605275 MONDO:0011531 NS2 rgd_disease_ontology DOID:0060580 Noonan syndrome 2 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO) PMID:5782826 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO) MIM:609942 MESH:C537847 NS3 rgd_disease_ontology DOID:0060581 Noonan syndrome 3 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO) PMID:16474405 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO) MIM:610733 SOS1-RELATED CONDITION SOS1-RELATED DISORDER MESH:C548082 NS4 rgd_disease_ontology DOID:0060582 Noonan syndrome 4 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO) PMID:19438935 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO) MIM:611553 MESH:C548083 NS5 rgd_disease_ontology DOID:0060583 Noonan syndrome 5 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO) PMID:17603483 A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO) MIM:613224 MESH:C548084 NS6 rgd_disease_ontology DOID:0060584 Noonan syndrome 6 A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO) PMID:19966803 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO) MIM:613706 MONDO:0013379 NS7 rgd_disease_ontology DOID:0060585 Noonan syndrome 7 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO) PMID:19206169 A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO) MIM:615355 NS8 RIT1-RELATED CONDITION rgd_disease_ontology DOID:0060586 Noonan syndrome 8 A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO) PMID:24939608 PMID:25124994 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO) MIM:616559 NS9 SOS2-RELATED CONDITION rgd_disease_ontology DOID:0060587 Noonan syndrome 9 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO) PMID:25795793 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO) MIM:616564 MONDO:0014693 AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1 NS10 rgd_disease_ontology LZTR1-related disorder DOID:0060588 Noonan syndrome 10 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO) PMID:25795793 A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO) GARD:331 MESH:C536719 MIM:216340 MONDO:0008995 ORDO:3472 YVS cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome rgd_disease_ontology DOID:0060589 Yunis-Varon syndrome A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO) PMID:23623387 A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO) MIM:610965 GARD:10628 MESH:C567043 NCI:C173111 XFEPS XPF-ERCC1 Progeroid Syndrome rgd_disease_ontology DOID:0060590 XFE progeroid syndrome A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO) PMID:17183314 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO) GARD:9297 MESH:C536697 MIM:193670 MONDO:8000006 NCI:C176819 ORDO:51636 CXCR4-RELATED CONDITION WHIMS1 warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1 rgd_disease_ontology DOID:0060591 WHIM syndrome 1 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO) PMID:10767001 https://en.wikipedia.org/wiki/WHIM_syndrome An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO) rgd 2017-09-21T00:00:00Z EFO:1001935 NCI:C9143 B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia rgd_disease_ontology DOID:0060592 B-cell adult acute lymphocytic leukemia An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO) https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO) DOID:8747 ICD10CM:C92.2 ICD9CM:205.2 ICDO:9876/3 MESH:D054438 NCI:C3176 NCI:C3519 ORDO:98824 Ph1-negative myelogenous leukemia Ph1-negative myelogenous leukemias Ph1-negative myeloid leukemia Ph1-negative myeloid leukemias Philadelphia-negative myeloid leukemia Philadelphia-negative myeloid leukemias aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia subacute myeloid leukemia rgd_disease_ontology DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO) PMID:29226717 https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO) NHS-RELATED CONDITION GARD:7161 MESH:C538336 MIM:302350 MONDO:0010545 ORDO:627 Mesiodens-Cataract syndrome NHS X-linked cataract, with Hutchinsonian teeth cataract-dental syndrome rgd_disease_ontology DOID:0060599 Nance-Horan syndrome A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO) PMID:2246772 PMID:6467651 https://en.wikipedia.org/wiki/Nance-Horan_syndrome true A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO) ICD10CM:D68.8 MESH:C537777 MIM:262850 MONDO:0009883 ORDO:79 SERPINF2-related condition anti-plasmin deficiency, congenital antiplasmin deficiency antiplasmin deficiency, congenital plasmin inhibitor deficiency rgd_disease_ontology antiplasmin defiency DOID:0060601 alpha-2-plasmin inhibitor deficiency A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO) PMID:11472338 PMID:156196 A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO) MIM:614307 AMACR-RELATED CONDITION EFO:1001980 MESH:C565768 AMACR Deficiency AMACRD rgd_disease_ontology DOID:0060602 alpha-methylacyl-CoA racemase deficiency A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO) PMID:11861706 An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO) MIM:106190 MONDO:0007118 ORDO:468666 ANHD Dann-Epstein-Sohar syndrome ITPR2-RELATED CONDITION rgd_disease_ontology DOID:0060603 isolated anhidrosis with normal sweat glands An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO) PMID:2401610 A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO) MIM:106280 ICD10CM:Q38.1 MESH:D000072676 Ankyloglossias partial ankyloglossia partial ankyloglossias tongue tie tongue ties rgd_disease_ontology DOID:0060604 ankyloglossia A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO) PMID:18983637 PMID:5251442 https://en.wikipedia.org/wiki/Ankyloglossia true A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO) rgd 2017-10-23T00:00:00Z rgd_disease_ontology DOID:0060606 fetal nicotine spectrum disorder A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO) PMID:20363831 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO) GARD:5120 MESH:C537577 MIM:210710 MONDO:0008871 ORDO:2636 MOPD 1 MOPD I MOPD1 MOPDI TALS Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia microcephalic osteodysplastic primordial dwarfism type 1 osteodysplastic primordial dwarfism, type 1 osteodysplastic primordial dwarfism, type I rgd_disease_ontology DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO) MIM:210710 PMID:22302400 An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO) MIM:210720 MESH:C565898 ORDO:2637 MOPD II MOPD2 MOPDII Majewski osteodysplastic primordial dwarfism type II PCNT-RELATED CONDITION microcephalic osteodysplastic primordial dwarfism with tooth abnormalities microcephalic osteodysplastic primordial dwarfism, type 2 osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism, type 2 rgd_disease_ontology DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO) MIM:210720 PMID:7551160 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO) ACTG2-RELATED CONDITION MESH:C536138 MESH:C563597 MIM:155310 MIM:PS249210 MONDO:0025986 NCI:C98982 ORDO:2241 Berdon syndrome MMIH VSCM idiopathic intestinal pseudoobstruction infantile visceral myopathy megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH megaduodenum and/or megacystis visceral myopathy rgd_disease_ontology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO) PMID:21792650 PMID:25407000 https://en.wikipedia.org/wiki/Berdon_syndrome https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO) MESH:C535554 MIM:PS605552 rgd_disease_ontology DOID:0060611 abdominal obesity-metabolic syndrome A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO) PMID:17167477 An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO) MIM:615812 MONDO:0014352 AOMS3 DYRK1B-related condition central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease rgd_disease_ontology DOID:0060612 abdominal obesity-metabolic syndrome 3 An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO) MIM:615812 PMID:24827035 A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO) TBX22-related condition MESH:C536426 MIM:303400 MONDO:0010560 ORDO:324601 CPX X-linked cleft palate X-linked cleft palate and ankyloglossia rgd_disease_ontology DOID:0060613 X-linked cleft palate with or without ankyloglossia A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO) PMID:14729838 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO) TBX3-related condition GARD:118 MESH:C536937 MIM:181450 MONDO:0008411 ORDO:3138 Pallister ulnar-mammary syndrome Schinzel syndrome UMS ulnar-mammary syndrome of Pallister rgd_disease_ontology DOID:0060614 ulnar-mammary syndrome A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO) PMID:8595424 PMID:8923944 A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO) GLIS3-related condition MESH:C565705 MIM:610199 MONDO:0012436 ORDO:79118 NDH NDH syndrome rgd_disease_ontology DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO) PMID:16715098 A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO) GARD:10457 MESH:C563425 MIM:PS606176 MONDO:0100164 NCI:C114902 ORDO:99885 PDMI PNDM permanent diabetes mellitus, of infancy permanent neonatal diabetes mellitus (PNDM) DEND developmental delay, epilepsy, and neonatal diabetes permanent neonatal diabetes mellitus, with neurologic features rgd_disease_ontology DOID:0060639 permanent neonatal diabetes mellitus A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO) PMID:17213273 A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO) GARD:2198 MESH:C535737 MIM:602473 MONDO:0011229 ORDO:51188 EE Epema Syndrome encephalopathy, petechiae, and ethylmalonic aciduria syndrome of encephalopathy, petechiae, and ethylmalonic aciduria rgd_disease_ontology DOID:0060640 ethylmalonic encephalopathy A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO) PMID:20528888 https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO) CILK1-RELATED CONDITION MESH:C567210 MIM:612651 MONDO:0012980 ORDO:199332 ECO ECO syndrome endocrine-cerebroosteodysplasia DYSPLASTIC CORPUS CALLOSUM rgd_disease_ontology DOID:0060641 endocrine-cerebro-osteodysplasia syndrome A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO) PMID:19185282 PMID:24853502 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO) ICD10CM:Q81.2 MESH:C567122 MONDO:0009179 ORDO:79408 Hallopeau-Siemens disease RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive epidermolysis bullosa dystrophica inversa dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, AR epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, recessive severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa rgd_disease_ontology DOID:0060642 recessive dystrophic epidermolysis bullosa An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO) PMID:3307723 PMID:8513326 https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO) rgd 2017-10-23T00:00:00Z GARD:1280 ICD10CM:K83.01 MIM:613806 MONDO:0013433 NCI:C4828 ORDO:171 PSC primary sclerosing cholangitides rgd_disease_ontology DOID:0060643 primary sclerosing cholangitis A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO) PMID:7877651 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO) MESH:C536123 MIM:600092 MONDO:0010814 ORDO:1422 HHAT-RELATED CONDITION NNMS Nivelon-Nivelon-Mabille syndrome chondrodysplasia pseudohermaphrodism syndrome chondrodysplasia-disorder of sex development syndrome pseudohermaphrodism and chondrodysplasia rgd_disease_ontology DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO) PMID:1342874 An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO) GARD:6108 ICD10CM:M86.3 MESH:C535456 MIM:PS609628 MONDO:0009813 ORDO:324964 CMO CRMO chronic multifocal osteomyelitis chronic osteomyelitis rgd_disease_ontology DOID:0060645 chronic recurrent multifocal osteomyelitis An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO) PMID:11973628 PMID:4403064 https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis https://www.nomidalliance.org/crmo.php A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO) MIM:603523 MESH:C535461 ORDO:264688 congenital hydrothorax rgd_disease_ontology DOID:0060646 congenital chylothorax A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO) PMID:416049 https://en.wikipedia.org/wiki/Chylothorax A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO) CHUK-related condition MIM:613630 MONDO:0013334 ORDO:465824 cocoon syndrome rgd_disease_ontology DOID:0060647 fetal encasement syndrome A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO) PMID:20961246 An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO) rgd 2017-11-06T00:00:00Z DOID:0050786 DOID:0060605 GARD:10025 MESH:C537775 MIM:PS107250 MONDO:0011119 MONDO:0019503 ORDO:88632 ORDO:98634 ASMD ASOD IGDS anterior segment anomalies anterior segment developmental anomaly anterior segment mesenchymal dysgenesis anterior segment ocular dysgenesis corneal opacification and other ocular anomalies corneal opacification with other ocular anomalies iridogoniodysgenesis iridogoniodysgenesis syndrome sclerocornea with other ocular anomalies anterior segment anomalies and cataract rgd_disease_ontology DOID:0060648 anterior segment dysgenesis An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO) PMID:17914436 PMID:30242500 https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO) MESH:C536439 MIM:217700 MONDO:0009019 ORDO:293603 CHED CHED2 congenital hereditary endothelial dystrophy of the cornea corneal dystrophy, congenital hereditary endothelial corneal endothelial dystrophy 2 corneal endothelial dystrophy 2, autosomal recessive corneal endothelial dystrophy type 2 rgd_disease_ontology DOID:0060649 congenital hereditary endothelial dystrophy of cornea A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO) PMID:16767101 An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO) MIM:222730 GARD:1855 MESH:C536171 ORDO:2195 DCBXA Dicarboxylic amino aciduria Dicarboxylicamino Aciduria Glutamate and aspartate transport defect dicarboxylicaminoaciduria glutamate-aspartate transport defect inborn error of glutamic and aspartate transport rgd_disease_ontology DOID:0060650 dicarboxylic aminoaciduria An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO) PMID:18200002 A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO) MYH9-related condition EFO:0009646 MESH:C535507 MESH:C537831 MIM:155100 MONDO:0015912 NCI:C158788 OMIA:001608 ORDO:182050 APSM Alport syndrome with leukocyte inclusions and macrothrombocytopenia Alport syndrome with macrothrombocytopenia BDPLT6 Brodie-Chole-Griffin syndrome Dohle leukocyte inclusions with giant platelets EPSTNS Epstein syndrome FTNS Fechtner syndrome Fechtner's syndrome MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS MATINS MHA MYH9 gene-related autosomal macrothrombocytopenias MYH9-related disorder MYH9-related disorders MYH9-related macrothrombocytopenias MYH9RD Macrothrombocytopenia and Progressive Sensorineural Deafness May-Hegglin anomaly SBS Sebastian platelet syndrome Sebastian syndrome autosomal dominant MYH9 spectrum disorders bleeding disorder, platelet-type, 6 macrothrombocytopathy, nephritis, and deafness macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions macrothrombocytopenia with dispersed leukocytic inclusions macrothrombocytopenia with leukocyte inclusions macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions macrothrombocytopenia, progressive deafness rgd_disease_ontology DOID:0060651 MYH-9 related disease A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO) PMID:21567368 https://ghr.nlm.nih.gov/condition/myh9-related-disorder A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO) MIM:133100 ICD10CM:D75.0 MESH:C536842 ORDO:90042 ECYT1 PFCP PRIMARY FAMILIAL POLYCYTHEMIA DUE TO EPO RECEPTOR MUTATION autosomal dominant benign erythrocytosis benign familial polycythemia congenital erythrocytosis hereditary erythrocytosis primary familial and congenital polycythemia primary familial polycythemia rgd_disease_ontology DOID:0060652 familial erythrocytosis 1 A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO) PMID:9292543 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO) PIP5K1C-related condition GARD:12644 MESH:C566961 MIM:611369 MONDO:0012656 ORDO:137783 LCCS3 multiple contractural syndrome, Israeli Bedouin type B multiple contracture syndrome, Israeli Bedouin type B rgd_disease_ontology DOID:0060653 lethal congenital contracture syndrome 3 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO) PMID:17701898 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO) GARD:12645 MIM:614915 LCCS4 rgd_disease_ontology MYBPC1-RELATED AUTOSOMAL RECESSIVE NON-LETHAL ARTHROGRYPOSIS MULTIPLEX CONGENITA SYNDROME DOID:0060654 lethal congenital contracture syndrome 4 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO) PMID:22610851 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO) rgd 2017-10-25T00:00:00Z DOID:1699 CONGENITAL ICHTHYOSIS OF SKIN MESH:D016113 MIM:PS242300 MONDO:0017265 NCI:C84805 ORDO:281097 ARCI alligator skin congenital ichthyosiform erythroderma congenital ichthyosiform erythroderma, dry type congenital ichthyosiform erythroderma, wet type congenital ichthyosiform erythrodermas congenital non bullous ichthyosiform erythroderma congenital nonbullous ichthyosiform erythroderma ichthyosiform erythroderma lamellar ichthyose lamellar ichthyosis nonbullous congenital lamellar ichthyosis nonbullous erythroderma ichthyosiforme rgd_disease_ontology lamellar desquamation of the newborn DOID:0060655 autosomal recessive congenital ichthyosis An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO) PMID:20643494 https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance https://www.ncbi.nlm.nih.gov/books/NBK1420/ An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO) MIM:242300 OMIA:000546 GARD:3170 MESH:D017490 ORDO:100976 ORDO:281122 ORDO:281127 ORDO:313 ARCI1 AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION ICR2 Ichthyosis Congenita II Ichthyosis, Lamellar, 1 Ichthyosis, TGM1-related LI1 Lamellar Exfoliation of Newborn SHCB TGM1-RELATED CONDITION bathing suit ichthyosis collodion baby syndrome collodion baby syndromes collodion fetus desquamation of newborn ichthyosis congenita ichthyosis congenita I lamellar ichthyosis type 1 newborn desquamation newborn desquamations newborn lamellar exfoliation newborn lamellar exfoliations self-healing collodion baby rgd_disease_ontology DOID:0060656 autosomal recessive congenital ichthyosis 1 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO) PMID:7824952 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO) GARD:5808 ICD10CM:Q00.0 MESH:D000757 MIM:PS206500 NCI:C84560 ORDO:1048 ANPH Aprosencephaly anencephalia anencephalias anencephalus aprosencephalies brain congenital absence congenital absence of brain hemicranial anencephaly incomplete anencephaly partial anencephalies partial anencephaly rgd_disease_ontology DOID:0060668 anencephaly A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO) https://en.wikipedia.org/wiki/Anencephaly https://ghr.nlm.nih.gov/condition/anencephaly A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO) EFO:1001343 MESH:D020786 MIM:PS116860 NCI:C84626 CAM CCM Cavernous Angioma, Central Nervous System Cavernous Angiomatous Malformation Cavernous Hemangioma of Brain Cerebral Capillary Malformation Cerebral Cavernous Hemangioma brain cavernous hemangioma brain cavernous hemangiomas cavernous angiomatous malformations cavernous hemangioma, central nervous system cerebral capillary malformations cerebral cavernous hemangiomas cerebral cavernous malformations extracerebral cavernous hemangioma extracerebral cavernous hemangiomas familial cavernous angioma familial cavernous angiomas familial cavernous malformation familial cavernous malformations intracerebral cavernous hemangioma intracerebral cavernous hemangiomas CAVERNOUS MALFORMATIONS OF CNS AND RETINA HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS rgd_disease_ontology DOID:0060669 cerebral cavernous malformation A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO) http://hmg.oxfordjournals.org/content/18/5/919.long https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO) MIM:603284 MESH:C566394 ORDO:221061 CCM2 CCM2-RELATED CONDITION cerebral cavernous malformations 2 rgd_disease_ontology DOID:0060670 cerebral cavernous malformation 2 A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO) PMID:14624391 A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO) MIM:603285 ICD10CM:Q28.3 MESH:C566393 CCM3 PDCD10-RELATED DISORDER cerebral cavernous malformations 3 rgd_disease_ontology DOID:0060671 cerebral cavernous malformation 3 A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO) PMID:15543491 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO) ICD10CM:G31.0 MIM:607485 MONDO:0011842 FTD-GRN FTD-PGRN FTD2 FTDU FTLD with TDP 43 Pathology FTLD-TDP, GRN-related FTLDU GRN-related frontotemporal dementia GRN-related frontotemporal lobar degeneration with TDP43 inclusions frontotemporal dementia with TDP43 inclusions, GRN-related frontotemporal lobar degeneration with ubiquitin positive inclusions hereditary dysphasic disinhibition dementia ubiquitin-positive frontotemporal dementia HDDD aphasia, primary progressive PPA rgd_disease_ontology DOID:0060672 frontotemporal dementia 2 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO) PMID:16862116 PMID:16983677 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO) GARD:7377 ICD10CM:Q13.4 MESH:C537884 MONDO:0011414 ORDO:708 irido-corneo-trabecular dysgenesis rgd_disease_ontology DOID:0060673 Peters anomaly A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO) PMID:11403040 PMID:12614756 PMID:8162071 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO) EFO:0004692 MIM:PS604772 MONDO:0017990 ORDO:3286 bidirectional tachycardia induced by catecholamines catecholamine-induced polymorphic ventricular tachycardia EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIA rgd_disease_ontology VTSIP stress-induced polymorphic ventricular tachycardia DOID:0060674 catecholaminergic polymorphic ventricular tachycardia A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO) PMID:17875969 https://www.ncbi.nlm.nih.gov/books/NBK1289 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO) DOID:0110071 RYR2-RELATED CONDITION MESH:C563409 MIM:604772 MONDO:0011484 NCI:C123414 ORDO:730618 ARVC2 ARVD2 CPVT1 CVPT1 VTSIP1 arrhythmogenic right ventricular cardiomyopathy 2 arrhythmogenic right ventricular cardiomyopathy type 2 arrhythmogenic right ventricular dysplasia 2 catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy catecholaminergic polymorphic ventricular tachycardia type 1 familial arrhythmogenic right ventricular dysplasia 2 stress-induced polymorphic ventricular tachycardia 1 rgd_disease_ontology DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO) PMID:12093772 PMID:17875969 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO) ICD10CM:I47.2 MIM:611938 MONDO:0012762 ORDO:730631 CPVT2 CVPT2 VTSIP2 ventricular tachycardia, stress-induced polymorphic 2 rgd_disease_ontology DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO) PMID:11401939 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO) MIM:614021 ORDO:730644 CPVT3 CVPT3 TECRL-RELATED CONDITION rgd_disease_ontology DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO) PMID:17666061 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO) MIM:614916 CPVT4 CVPT4 rgd_disease_ontology DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO) PMID:23040497 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO) TRDN-related condition MIM:615441 MONDO:0014191 CARDAR CPVT5 CVPT5 cardiac arrhythmia syndrome, with or without skeletal muscle weakness catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness rgd_disease_ontology DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO) PMID:22422768 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO) MESH:C563184 MIM:600510 MONDO:0010896 GPDS1 PDS glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma rgd_disease_ontology DOID:0060680 pigment dispersion syndrome An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO) PMID:10192392 PMID:3947295 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO) GARD:11918 MESH:C579932 MIM:PS600513 MONDO:0020300 ORDO:98784 ADNFLE ENFL FAMILIAL SLEEP-RELATED HYPERMOTOR EPILEPSY autosomal dominant epilepsy nocturnal epilepsy, frontal lobe type nocturnal frontal lobe epilepsy rgd_disease_ontology DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO) PMID:7895015 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO) CHRNA4-RELATED CONDITION MESH:C563930 MIM:600513 MONDO:0010899 ENFL1 epilepsy, nocturnal frontal lobe, 1 epilepsy, nocturnal frontal lobe, type 1 rgd_disease_ontology DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO) PMID:7550350 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO) MESH:C566400 MIM:603204 MONDO:0011297 ENFL2 Epilepsy, Nocturnal Frontal Lobe, 2 Epilepsy, Nocturnal Frontal Lobe, Type 2 rgd_disease_ontology DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO) PMID:9758605 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO) CHRNB2-related condition MESH:C565334 MIM:605375 MONDO:0011545 ENFL3 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 nocturnal frontal lobe epilepsy 3 rgd_disease_ontology DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO) PMID:11062464 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO) DOID:0081119 MESH:C563679 MIM:610353 MONDO:0012474 BFIC6 BFIS6 CHRNA2-RELATED DISORDER ENFL4 autosomal dominant nocturnal frontal lobe epilepsy type 4 benign familial infantile convulsions 6 benign familial infantile seizures 6 familial epilepsy with nocturnal wandering and ictal fear nocturnal frontal lobe epilepsy 4 nocturnal frontal lobe epilepsy type 4 rgd_disease_ontology DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO) PMID:16826524 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO) KCTD13-RELATED DISORDER MIM:615005 MONDO:0014002 ENFL5 Epilepsy, Nocturnal Frontal Lobe, 5 Epilepsy, Nocturnal Frontal Lobe, Type 5 rgd_disease_ontology DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO) PMID:23086396 A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO) MIM:108010 EFO:0003916 ICD10CM:Q28.2 MESH:D002538 MONDO:0007154 ORDO:46724 BAVM Cerebral Arteriovenous Malformation cerebral arteriovenous malformations congenital intracranial arteriovenous malformations intracranial AVM (arteriovenous malformation) intracranial arteriovenous malformation intracranial arteriovenous malformations ruptured intracranial arteriovenous malformation CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO rgd_disease_ontology DOID:0060688 arteriovenous malformations of the brain A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO) PMID:7193302 An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO) MIM:209500 HR-RELATED CONDITION ICD10CM:L65.8 MESH:C565924 ORDO:86819 APL papular atrichia rgd_disease_ontology DOID:0060689 atrichia with papular lesions An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO) PMID:10205263 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO) MIM:609129 MESH:C563790 AUNA1 DIAPH3-RELATED CONDITION NSDAN auditory neuropathy, nonsyndromic dominant rgd_disease_ontology DOID:0060690 autosomal dominant auditory neuropathy 1 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO) PMID:15520414 PMID:20624953 A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO) MESH:C566061 MIM:187800 MONDO:0008552 BDPLT16 Glanzmann thrombasthenia-like with macrothromocytopenia 1 autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli rgd_disease_ontology DOID:0060691 platelet-type bleeding disorder 16 A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO) PMID:18065693 PMID:21454453 PMID:9834222 A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO) MESH:C565220 MIM:609821 MONDO:0012354 OMIA:001564 ORDO:36355 ADP platelet receptor P2Y12 defect BDPLT8 IMPAIRED ADP-INDUCED PLATELET AGGREGATION P2RY12-related condition P2Y12 defect bleeding disorder due to P2RY12 defect bleeding disorder, P2RY12 bleeding disorder, P2RY12-related rgd_disease_ontology DOID:0060692 platelet-type bleeding disorder 8 A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO) PMID:11196645 PMID:20966167 An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO) ICD10CM:E70.8 MESH:C563156 MIM:300615 MONDO:0010379 ORDO:3057 BRNRS MAOA-RELATED CONDITION monoamine oxidase A deficiency ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO rgd_disease_ontology DOID:0060693 Brunner syndrome An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO) PMID:8211186 PMID:8503438 An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO) MIM:601238 ICD10CM:G11.0 MESH:C563363 ORDO:94122 ATCAY ATCAY-RELATED CONDITION Cayman ataxia Cayman cerebellar ataxia rgd_disease_ontology DOID:0060694 Cayman type cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO) PMID:14556008 PMID:8845847 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO) OMIA:001594 GARD:3129 MESH:D000071017 MIM:PS149400 ORDO:306773 Kok disease STHE congenital stiff man syndrome exagerrated startle reflex exaggerated startle reaction hyperekplexias startle disease rgd_disease_ontology DOID:0060695 hyperekplexia A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO) PMID:12427512 PMID:1334371 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO) rgd 2017-10-23T00:00:00Z MIM:149400 MONDO:0007868 GLRA1-related condition HKPX1 hereditary hyperekplexia 1 rgd_disease_ontology DOID:0060696 hyperekplexia 1 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO) PMID:7881416 PMID:8298642 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO) ICD10CM:G25.8 MIM:614619 GLRB-RELATED CONDITION HKPX2 rgd_disease_ontology DOID:0060697 hyperekplexia 2 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO) PMID:11929858 PMID:21391991 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO) MIM:614618 MONDO:0013827 ORDO:3197 HKPX3 SLC6A5-related condition rgd_disease_ontology DOID:0060698 hyperekplexia 3 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO) PMID:16751771 PMID:22700964 A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO) rgd 2017-10-27T00:00:00Z GARD:10828 MIM:PS145980 MONDO:0018458 NCI:C123262 ORDO:405 FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia nephrolithiasis/nephrocalcinosis rgd_disease_ontology DOID:0060699 familial hypocalciuric hypercalcemia A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO) PMID:19809483 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO) ICD10CM:E83.5 MESH:C537145 MIM:145980 MONDO:0007791 ORDO:93372 FBH1 FHH type 1 FHH1 HHC1 familial benign hypercalcemia 1 familial benign hypercalcemia type 1 familial hypocalciuric hypercalcemia, type 1 familial hypocalciuric hypercalcemia, type I hypocalciuric hypercalcemia type I rgd_disease_ontology DOID:0060700 familial hypocalciuric hypercalcemia 1 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO) PMID:7916660 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO) MIM:145981 GNA11-RELATED CONDITION GARD:9758 MESH:C537146 ORDO:101049 FBH2 FHH type 2 HHC2 familial benign hypercalcemia, type 2 familial benign hypercalcemia, type II familial hypocalciuric hypercalcemia type 2 familial hypocalciuric hypercalcemia, type II hypocalciuric hypercalcemia type II rgd_disease_ontology DOID:0060701 familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO) PMID:23802516 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO) MIM:600740 GARD:2878 MESH:C537147 ORDO:101050 AP2S1-RELATED CONDITION FBH3 FHH type 3 HHC3 familial benign hypercalcemia, Oklahoma type familial benign hypercalcemia, Oklahoma variant familial benign hypercalcemia, type III familial hypocalciuric hypercalcemia type 3 familial hypocalciuric hypercalcemia type III hypocalciuric hypercalcemia type III rgd_disease_ontology DOID:0060702 familial hypocalciuric hypercalcemia 3 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO) PMID:23222959 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO) GARD:7097 MESH:C537369 MIM:602849 MONDO:0011274 NCI:C84904 ORDO:53271 FGFR3-associated coronal synostosis FGFR3-related craniosynostosis MNKES Muenke nonsyndromic coronal craniosynostosis syndrome of coronal craniosynostosis rgd_disease_ontology DOID:0060703 Muenke syndrome A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO) PMID:18000976 PMID:9042914 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO) MESH:D008232 MIM:PS308240 ORDO:2442 ORDO:538963 Combined immunodeficiency due to ITK deficiency Duncan disease Duncan's syndrome EBVS Epstein Barr Virus Induced Lymphoproliferative Disease In Males Epstein Barr Virus Infection, Familial Fatal Familial Fatal Epstein Barr Infection IMD5 INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO Immunodeficiency 5 Immunodeficiency, X Linked Progressive Combined Variable LYP Lymphoproliferative Disorder Purtilo Syndrome Purtilo Syndromes X Linked Lymphoproliferative Disease X-linked lymphoproliferative diseases X-linked lymphoproliferative disorder X-linked lymphoproliferative disorders X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndromes XLP XLPD lymphoproliferative disorders rgd_disease_ontology EBV infection, severe, susceptibility to Lymphoproliferative disorders, susceptibility to DOID:0060704 lymphoproliferative syndrome A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO) PMID:198660 PMID:22197273 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO) rgd 2017-10-30T00:00:00Z GARD:7906 MIM:308240 NCI:C170434 ORDO:538931 SH2D1A-RELATED CONDITION X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO SH2D1A DEFICIENCY XLP1 rgd_disease_ontology DOID:0060705 X-linked lymphoproliferative syndrome 1 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO) PMID:6283885 PMID:9771704 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO) MIM:300635 GARD:10916 ICD10CM:D82.3 MESH:C564469 ORDO:538934 X-LINKED LYMPHOPROLIFERATIVE DISEASE DUE TO XIAP DEFICIENCY XIAP deficiency XIAP-RELATED DISORDER XLP2 rgd_disease_ontology DOID:0060706 X-linked lymphoproliferative syndrome 2 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO) PMID:17080092 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO) MESH:C567815 MIM:613011 MONDO:0013081 EBV-associated lymphoproliferative syndrome, autosomal 1 ITK-RELATED DISORDER LPFS1 rgd_disease_ontology DOID:0060707 lymphoproliferative syndrome 1 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO) PMID:19425169 PMID:21109689 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO) ICD10CM:D47.9 MIM:615122 MONDO:0014054 ORDO:238505 CD27 deficiency LPFS2 rgd_disease_ontology DOID:0060708 lymphoproliferative syndrome 2 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO) PMID:22197273 PMID:22801960 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO) MIM:242100 MESH:C538603 NCI:C132827 ALOX12B-RELATED CONDITION ARCI2 COLLODION BABY, SELF-HEALING NCIE1 Nonbullous congenital ichthyosiform erythroderma 1 ichthyosiform erythroderma, BROCQ congenital, nonbullous form rgd_disease_ontology DOID:0060710 autosomal recessive congenital ichthyosis 2 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO) PMID:11773004 PMID:16116617 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO) MESH:C564699 MIM:606545 MONDO:0011680 ALOXE3-RELATED CONDITION ARCI3 COLLODION BABY, SELF-HEALING LI5 lamellar ichthyosis 5 lamellar ichthyosis type 5 rgd_disease_ontology DOID:0060711 autosomal recessive congenital ichthyosis 3 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO) PMID:11398099 PMID:11773004 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO) MIM:601277 ABCA12-RELATED CONDITION MESH:C537264 ARCI4A ICR2B Ichthyosis congenita 2B LI2 ichthyosis congenita IIB lamellar ichthyosis 2 lamellar ichthyosis, type 2 rgd_disease_ontology DOID:0060712 autosomal recessive congenital ichthyosis 4A An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO) PMID:10094194 PMID:20672373 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO) ABCA12-RELATED CONDITION ICD10CM:Q80.4 MESH:C538424 MIM:242500 MONDO:0009443 NCI:C98934 ORDO:457 ARCI4B HI congenital ichthyosis, autosomal recessive 4B (harlequin) harlequin baby syndrome harlequin fetus harlequin ichthyoses harlequin ichthyosis harlequin type ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis ichthyosis congenita, harlequin fetus type rgd_disease_ontology DOID:0060713 autosomal recessive congenital ichthyosis 4B An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO) PMID:21339420 https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO) MESH:C565749 MIM:604777 MESH:C537265 ARCI5 CYP4F22-RELATED CONDITION LI3 NNCI autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis ichthyosis congenita 3 ichthyosis congenita III lamellar ichthyosis 3 lamellar ichthyosis, type 3 rgd_disease_ontology DOID:0060714 autosomal recessive congenital ichthyosis 5 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO) PMID:10712223 PMID:16436457 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO) OMIA:001980 ICD10CM:Q80.2 MIM:612281 ARCI6 NIPAL4-RELATED CONDITION autosomal recessive congenital ichthyosis, NIPAL4-related ichthyosis, NIPAL4-related rgd_disease_ontology DOID:0060715 autosomal recessive congenital ichthyosis 6 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO) PMID:16436457 PMID:17557927 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO) rgd 2017-10-25T00:00:00Z MIM:615022 ARCI7 rgd_disease_ontology DOID:0060716 autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO) PMID:16117785 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO) MIM:613943 ARCI8 LI4 LIPN-RELATED CONDITION lamellar ichthyosis 4 late-onset lamellar ichthyosis rgd_disease_ontology DOID:0060717 autosomal recessive congenital ichthyosis 8 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO) PMID:21439540 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO) CERS3-related condition MIM:615023 MONDO:0014010 ARCI9 rgd_disease_ontology DOID:0060718 autosomal recessive congenital ichthyosis 9 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO) PMID:21093221 PMID:23754960 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO) OMIA:001588 MIM:615024 ARCI10 Ichthyosis, PNPLA1-related PNPLA1-RELATED CONDITION Ichthyosis, Golden Retriever rgd_disease_ontology DOID:0060719 autosomal recessive congenital ichthyosis 10 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO) PMID:22246504 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO) MESH:C536273 MIM:602400 ORDO:91132 ARCI11 ARIH IFAH IFAH syndrome IHS ST14-RELATED CONDITION autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome rgd_disease_ontology DOID:0060720 autosomal recessive congenital ichthyosis 11 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO) PMID:17273967 PMID:18843291 PMID:9450882 A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. (DO) ICD10CM:E77.8 MESH:C000626124 MIM:615273 MONDO:0800044 NCI:C126746 ORDO:404454 CDDG CDDG1 NGLY1-CDDG NGLY1-deficiency NGLY1-related condition deficiency of N-glycanase 1 rgd_disease_ontology CDG IV CDG1V CDGIV congenital disorder of glycosylation 1V congenital disorder of glycosylation type Iv DOID:0060728 congenital disorder of deglycosylation 1 A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. (DO) PMID:24651605 PMID:27388694 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO) MIM:128100 TOR1A-RELATED DISORDER MESH:C538005 NCI:C118780 DYT1 EOTD Early onset torsion dystonia Early-Onset Primary Dystonia Oppenheim dystonia Oppenheim's dystonia dystonia musculorum deformans 1 dystonia musculorum deformans type 1 early-onset generalized torsion dystonia primary torsion dystonia torsion dystonia 1, autosomal dominant DYSTONIA 1, TORSION, LATE-ONSET DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA rgd_disease_ontology DOID:0060730 torsion dystonia 1 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO) PMID:11912106 PMID:9288096 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO) GDNF-related condition EFO:0020025 GARD:8535 ICD10CM:G47.3 MESH:C536209 MIM:PS209880 MONDO:0800031 NCI:C98889 ORDO:661 CCHS Ondine curse Ondine syndrome Ondine-Hirschsprung disease congenital Ondine curse congenital central alveolar hypoventilation syndrome congenital central hypoventilation congenital failure of autonomic control idiopathic congenital central alveolar hypoventilation primary alveolar hypoventilation OHD central hypoventilation syndrome, late-onset rgd_disease_ontology DOID:0060731 congenital central hypoventilation syndrome An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO) PMID:11840487 PMID:12640453 PMID:8135282 PMID:8696331 A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO) MIM:158170 MESH:C538024 ORDO:261112 9p syndrome Alfi syndrome Monosomy 9p chromosome 9, monosomy 9p monosomy 9p syndrome rgd_disease_ontology DOID:0060732 chromosome 9p deletion syndrome A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO) PMID:18452192 PMID:4541805 PMID:6985017 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO) ITGA6-related condition ITGB4-related condition ICD10CM:Q81.8 MESH:C535377 MIM:226730 MIM:619817 MONDO:0009183 NCI:C162474 ORDO:79403 Carmi syndrome EB-PA EB-PA-ACC JEB-PA JEB5B JEB6 aplasia cutis congenita with gastrointestinal atresia epidermolysis bullosa junctionalis with pyloric atresia epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa 5B, with pyloric atresia junctional epidermolysis bullosa 6 with pyloric atresia junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita junctional epidermolysis bullosa-pyloric atresia syndrome rgd_disease_ontology DOID:0060733 junctional epidermolysis bullosa with pyloric atresia A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO) PMID:16473856 PMID:7545057 PMID:9185503 An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO) rgd 2017-10-27T00:00:00Z DOID:9002302 MIM:131760 ORDO:79396 EBS-DM EBS-gen sev EBS1A EBSDM epidermolysis bullosa herpetiformis Dowling-Meara epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex 1A, Dowling-Meara type epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex rgd_disease_ontology DOID:0060735 generalized severe epidermolysis bullosa simplex 1A An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO) PMID:1372711 PMID:1717157 PMID:18374450 https://www.ncbi.nlm.nih.gov/books/NBK1369/ An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO) ICD10CM:Q81.0 MESH:C535962 MIM:131950 ORDO:79401 EBS-O EBS5A EBSOG Ebs-Og epidermolysis bullosa simplex 1 epidermolysis bullosa simplex Ogna type rgd_disease_ontology DOID:0060736 epidermolysis bullosa simplex 5A Ogna type An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO) PMID:11851880 A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO) rgd 2017-10-26T00:00:00Z ICD10CM:Q81.1 ORDO:79404 Epidermolysis Bullosa Letali Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa junctionalis, Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa gravis of Herlitz junctional epidermolysis bullosa, Herlitz-Pearson type junctional epidermolysis bullosa, generalized severe lethal junctional epidermolysis bullosa rgd_disease_ontology DOID:0060737 junctional epidermolysis bullosa Herlitz type A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO) PMID:18374450 PMID:8012393 PMID:8586427 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO) MESH:C562639 ORDO:79402 ORDO:89840 JEB-nH gen JEN-nH epidermolysis bullosa junctionalis, Disentis type epidermolysis bullosa junctionalis, non-Herlitz type epidermolysis bullosa junctionalis, severe nonlethal generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type progressive epidermolysis bullosa junctionalis rgd_disease_ontology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO) PMID:10792571 PMID:11810295 PMID:18374450 PMID:7550320 PMID:7706760 A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO) HOXA13-related condition GARD:2594 ICD10CM:Q51.2 MESH:C535627 MIM:140000 MONDO:0007698 ORDO:2438 HFG HFG syndrome HFGS HFU HFU syndrome hand-foot-uterus syndrome rgd_disease_ontology DOID:0060739 hand-foot-genital syndrome A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO) PMID:5450271 PMID:9020844 A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO) MMUT-related condition ICD10CM:E71.1 MESH:C565390 MIM:251000 MONDO:0009612 NCI:C148366 ORDO:27 MAMM MMA due to MCM Deficiency methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency vitamin B12-unresponsive methylmalonic aciduria METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY methylmalonic aciduria, mut type rgd_disease_ontology methylmalonic aciduria, mut(-) type methylmalonic aciduria, mut(0) type DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO) PMID:1975493 PMID:1977311 A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO) MIM:613646 MONDO:0013341 NCI:C183527 ORDO:280183 MATR methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect methylmalonic aciduria, transient, due to transcobalamin receptor defect rgd_disease_ontology DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO) PMID:20524213 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO) EFO:0009073 MESH:C537360 MIM:251100 MONDO:0009613 NCI:C142171 ORDO:79310 MACA cblA methylmalonic acidemia cobalamin A disease methylmalonic acidemia cb1A type methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria (cobalamin deficiency) cblA type methylmalonic aciduria cb1A type methylmalonic aciduria cblA type methylmalonic aciduria of the cblA complementation type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl A rgd_disease_ontology DOID:0060742 methylmalonic acidemia cblA type A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO) PMID:12438653 PMID:5686220 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO) MMAB-related condition EFO:0009074 MESH:C537361 MIM:251110 MONDO:0009614 NCI:C142172 ORDO:79311 MACB cblB methylmalonic acidemia cobalamin B disease methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B rgd_disease_ontology methylmalonic aciduria cb1B type DOID:0060743 methylmalonic acidemia cblB type A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO) PMID:12471062 PMID:7213387 A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO) MIM:274600 SLC26A4-RELATED CONDITION SLC26A4-related disorder GARD:4271 ICD10CM:E07.1 MESH:C536648 NCI:C121745 ORDO:705 Goiter-deafness syndrome PDS Pendred's syndrome TDH2B autosomal recessive sensorineural hearing impairment and goiter congenital hypothyroidism due to dyshormonogenesis, 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B thyroid dyshormonogenesis 2B rgd_disease_ontology DOID:0060744 Pendred syndrome A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO) PMID:9398842 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO) GARD:1912 MESH:C535602 MIM:126600 MONDO:0007471 ORDO:75376 DHRD Malattia Leventinese Doyne honeycomb degeneration of retina MLVT radial drusen, autosomal dominant rgd_disease_ontology DOID:0060745 Doyne honeycomb retinal dystrophy A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO) PMID:10369267 PMID:11384588 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO) MIM:126700 MESH:C563034 cuticular drusen drusen of Bruch membrane grouped drusen, early adult-onset rgd_disease_ontology DOID:0060746 basal laminar drusen A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO) PMID:18252232 PMID:5448127 A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO) rgd 2017-10-30T00:00:00Z SALL4-related condition SALL4-related disorder GARD:9182 MIM:607323 MONDO:0011812 ORDO:93293 DR syndrome DRRS Duane anomaly with radial abnormalities and deafness Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acro-renal-ocular syndrome acrorenocular syndrome rgd_disease_ontology DOID:0060747 Duane-radial ray syndrome A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO) PMID:12393809 PMID:12843316 PMID:8882787 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO) MIM:600512 RDO:0003114 RDO:0008760 MESH:C537297 NCI:C141441 ORDO:101046 ADLTE ADPEAF AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES Autosomal Dominant Lateral Temporal Lobe Epilepsy Autosomal dominant partial epilepsy with auditory features ETL1 LGI1-RELATED CONDITION partial epilepsy with auditory features rgd_disease_ontology DOID:0060748 familial temporal lobe epilepsy 1 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO) PMID:10851389 PMID:12205652 PMID:15079010 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO) rgd 2017-10-19T00:00:00Z MIM:615697 MONDO:0014308 ORDO:163717 ETL6 rgd_disease_ontology DOID:0060749 familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO) PMID:24021842 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO) MESH:C566903 MIM:611630 MONDO:0012705 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE ETL3 FMTLE rgd_disease_ontology MDR1 polymorphism DOID:0060750 familial temporal lobe epilepsy 3 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO) PMID:17377072 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO) RELN-RELATED CONDITION MIM:616436 ORDO:101046 ETL7 rgd_disease_ontology DOID:0060751 familial temporal lobe epilepsy 7 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO) PMID:26046367 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO) CPA6-related condition MIM:614417 MONDO:0013741 ETL5 rgd_disease_ontology DOID:0060752 familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO) PMID:21922598 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO) MIM:611631 RDO:0015116 MESH:C566902 EPOLM ETL4 Epilepsy, Occipitotemporal Lobe, And Migraine With Aura rgd_disease_ontology DOID:0060753 familial temporal lobe epilepsy 4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO) PMID:17460155 PMID:18332351 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO) MIM:616461 MONDO:0014650 ETL8 GAL-related condition rgd_disease_ontology DOID:0060754 familial temporal lobe epilepsy 8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO) PMID:25691535 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO) MIM:608096 MONDO:0011965 ORDO:98819 ETL2 FTLE rgd_disease_ontology DOID:0060755 familial temporal lobe epilepsy 2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO) PMID:12011300 PMID:15342703 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO) rgd 2017-10-20T00:00:00Z SOST-related condition ICD10CM:M85.2 MIM:269500 MONDO:0010016 SOST1 rgd_disease_ontology DOID:0060756 sclerosteosis 1 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO) PMID:11179006 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO) MIM:614305 ORDO:3152 SOST2 rgd_disease_ontology DOID:0060757 sclerosteosis 2 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO) PMID:21471202 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO) rgd 2017-10-30T00:00:00Z GARD:10578 MIM:605258 MONDO:0011528 NCI:C129074 ORDO:101089 AID deficiency HIGM2 HIGM2 syndrome activation-induced cytidine deaminase deficiency hyper IgM immunodeficiency syndrome type 2 hyper IgM syndrome 2 hyper-IgM syndrome type 2 rgd_disease_ontology DOID:0060758 immunodeficiency with hyper-IgM type 2 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO) PMID:11007475 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO) rgd 2017-10-30T00:00:00Z GARD:10581 MIM:608106 ORDO:101092 HIGM5 HIGM5 syndrome HYPER IGM SYNDROME TYPE 5 HYPER-IGM SYNDROME TYPE 5 UNG-RELATED CONDITION hyper IgM immunodeficiency syndrome type 5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase rgd_disease_ontology DOID:0060759 immunodeficiency with hyper IgM type 5 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO) PMID:12958596 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO) GARD:10580 MESH:C564277 MIM:608184 MONDO:0011985 ORDO:101091 HIGM4 hyper-IgM syndrome 4 hyper-IgM syndrome type 4 rgd_disease_ontology DOID:0060760 immunodeficiency with hyper-IgM type 4 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO) PMID:12840068 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO) MESH:C536093 MIM:600080 MONDO:0010809 Cml-Like Syndrome, Familial rgd_disease_ontology DOID:0060761 familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO) PMID:8086739 A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO) GARD:1516 MESH:C536920 MIM:PS275210 ORDO:1662 fetal hypokinesia sequence due to restrictive dermopathy hyperkeratosis-contracture syndrome infantile restrictive dermopathy lethal restrictive dermopathy lethal tight skin contracture syndrome tight skin contracture syndrome rgd_disease_ontology DOID:0060762 restrictive dermopathy A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO) PMID:15317753 PMID:20101687 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO) rgd 2017-10-27T00:00:00Z RS1-related condition ICD10CM:Q14.1 MIM:312700 MONDO:0010725 NCI:C75483 ORDO:792 RS1 X-linked juvenile retinoschisis X-linked retinoschisis XLRS XLRS1 congenital X-linked retinoschisis juvenile retinoschisis, X chromosome-linked rgd_disease_ontology DOID:0060763 X-linked juvenile retinoschisis 1 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO) PMID:17172462 PMID:9326935 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO) MIM:268310 ROR2-RELATED CONDITION ROR2-related disorder MESH:C535863 ORDO:1507 COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA RRS costovertebral segmentation defect-mesomelia syndrome BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE Covesdem Syndrome autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1 autosomal recessive Robinow syndrome, with brachy-syn-polydactyly rgd_disease_ontology DOID:0060764 autosomal recessive Robinow syndrome A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO) PMID:10932186 PMID:10932187 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO) rgd 2017-04-03T00:00:00Z MIM:616331 DRS2 DVL1-RELATED CONDITION rgd_disease_ontology DOID:0060765 autosomal dominant Robinow syndrome 2 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO) PMID:25817014 PMID:26924530 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO) rgd 2017-10-23T00:00:00Z MIM:180700 MONDO:0024455 ORDO:3107 DRS1 WNT5A-related condition rgd_disease_ontology DOID:0060766 autosomal dominant Robinow syndrome 1 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO) PMID:19918918 PMID:24716670 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO) rgd 2016-04-19T00:00:00Z MIM:616894 ORDO:97360 DRS3 DVL3-RELATED CONDITION rgd_disease_ontology DOID:0060767 autosomal dominant Robinow syndrome 3 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO) PMID:26924530 A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO) DOID:9007233 RAI1-related condition GARD:8197 MESH:D058496 MIM:182290 MONDO:0008434 NCI:C75469 ORDO:819 17p11.2 Monosomy 17p11.2 microdeletion syndrome Chromosome 17p11.2 Deletion Syndrome SMCR SMS Smith-Magenis syndrome chromosome region Deafness, with Smith-Magenis Syndrome rgd_disease_ontology SMITH-MAGENIS SYNDROME-LIKE DOID:0060768 Smith-Magenis syndrome A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO) PMID:16845274 PMID:21844811 PMID:6745947 https://www.ncbi.nlm.nih.gov/books/NBK1310/ A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO) MIM:601705 FOXN1-RELATED DISORDER ICD10CM:D82.8 MESH:C536781 ORDO:169095 Pignata Guarino syndrome alymphoid cystic thymic dysgenesis congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency rgd_disease_ontology DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO) PMID:10206641 PMID:8911612 https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO) DOID:0060771 MESH:C563853 MIM:608808 MED13L-RELATED CONDITION MED13L-related disorder ICD10CM:Q20.3 MESH:D014188 MONDO:0000153 NCI:C84742 ORDO:216675 ORDO:860 D-TGA DTGA1 TRANSPOSITION OF THE GREAT ARTERIES congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels dextro-looped transposition of the great arteries 1 great arteries transposition great arteries transpositions great vessels transposition great vessels transpositions isolated ventriculoarterial discordance transposition of great arteries transposition of great vessels ventriculoarterial discordance with atrioventricular concordance rgd_disease_ontology DOID:0060770 dextro-looped transposition of the great arteries A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO) PMID:11799476 true A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO) GDF1-RELATED CONDITION GDF1-RELATED DISORDERS MIM:613854 CHTD6 DTGA3 congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries 3 rgd_disease_ontology DOID:0060772 multiple types of congenital heart defects 6 A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO) PMID:17924340 A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO) NECTIN1-related condition GARD:375 MESH:C536726 MIM:225060 MONDO:0009151 NCI:C122656 ORDO:3253 Bustos Simosa Pinto Cisternas syndrome CLPED1 ED4 Ectodermal dysplasia Margarita island type Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly Margarita type of ectodermal dysplasia Zlotogora-Ogur syndrome Zlotogora-Zilberman-Tenenbaum syndrome autosomal recessive ectodermal dysplasia cleft lip/palate-syndactyly-pili torti syndrome ectodermal dysplasia type 4 syndactyly-ectodermal dysplasia-cleft/lip palate CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7 OFC7 rgd_disease_ontology DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO) PMID:3035184 PMID:9758630 A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO) rgd 2017-10-04T00:00:00Z MIM:PS214700 rgd_disease_ontology DOID:0060774 congenital diarrhea A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO) PMID:22605972 PMID:30894704 A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO) MYO5B-related condition GARD:7039 MESH:C537470 MIM:251850 MONDO:0009635 ORDO:2290 DIAR2 Davidson disease MVD MVID MVID1 congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillous atrophy congenital microvillus atrophy diarrhea 2 with microvillus atrophy diarrhea with microvillus atrophy intractable diarrhea of infancy microvillus inclusion disease 1 DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS rgd_disease_ontology DOID:0060775 microvillus inclusion disease A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO) PMID:18724368 A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO) MIM:613217 EPCAM-RELATED CONDITION MESH:C567703 NCI:C183530 ORDO:92050 CTE DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy intestinal epithelial cell dysplasia tufting enteropathy rgd_disease_ontology DOID:0060776 congenital diarrhea 5 with tufting enteropathy A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO) PMID:18572020 PMID:23462293 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO) MIM:616868 ORDO:103908 CSD DIAR8 SLC9A3-RELATED CONDITION congenital sodium diarrhea rgd_disease_ontology DOID:0060777 congenital secretory sodium diarrhea 8 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO) PMID:26358773 A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. (DO) rgd 2017-10-17T00:00:00Z DOID:9009029 DGAT1-related condition ICD10CM:P78.3 MIM:615863 MONDO:0014375 ORDO:329242 DIAR7 congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy diarrhea 7 rgd_disease_ontology DOID:0060778 congenital diarrhea 7 with exudative enteropathy A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. (DO) PMID:23114594 PMID:31778854 A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO) MESH:C563673 MIM:610370 MONDO:0012479 ORDO:83620 DIAR4 NEUROG3-RELATED CONDITION congenital malabsorptive diarrhea 4 with diabetes mellitus and combined pituitary hormone deficiency congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis rgd_disease_ontology DOID:0060779 congenital malabsorptive diarrhea 4 A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO) PMID:36149814 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO) rgd 2017-10-17T00:00:00Z DOID:9004022 GUCY2C-related condition MIM:614616 MONDO:0013825 ORDO:314373 DIAR6 chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6 diarrhea 6 rgd_disease_ontology DOID:0060780 congenital diarrhea 6 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO) PMID:22436048 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO) MIM:270420 MESH:C562576 ORDO:563708 CSD DIAR3 SPINT2-RELATED CONDITION congenital secretory sodium diarrhea 3, syndromic congenital secretory sodium diarrhea 3, with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies congenital sodium diarrhea rgd_disease_ontology DOID:0060781 congenital secretory sodium diarrhea 3 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO) PMID:19185281 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO) MESH:C536189 ORDO:1896 Rudiger syndrome 1 Walker-Clodius syndrome cleft lip-cleft palate-lobster claw deformity syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-cleft lip/palate syndrome ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome rgd_disease_ontology DOID:0060782 EEC syndrome A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO) https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO) MIM:604292 MESH:C565799 NCI:C148261 EEC Syndrome 3 EEC3 rgd_disease_ontology DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO) PMID:10535733 PMID:8737655 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO) MIM:129900 MESH:C565062 ORDO:1896 EEC EEC Syndrome 1 EEC1 rgd_disease_ontology DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO) PMID:1424230 PMID:5454938 An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. (DO) LMNB1-RELATED CONDITION GARD:10587 MESH:C566813 MIM:169500 MONDO:0008215 ADLD adult-onset autosomal dominant demyelinating leukodystrophy adult-onset autosomal dominant leukodystrophy adult-onset leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease multiple sclerosis-like disorder SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE rgd_disease_ontology DOID:0060785 typical adult-onset autosomal dominant demyelinating leukodystrophy An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. (DO) PMID:16951681 PMID:19151023 https://www.ncbi.nlm.nih.gov/books/NBK338165/ A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO) rgd 2017-10-18T00:00:00Z MIM:PS312080 HLD rgd_disease_ontology DOID:0060786 hypomyelinating leukodystrophy A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO) PMID:24916848 PMID:25649058 PMID:27234264 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO) MESH:C563855 MIM:608804 MONDO:0012125 ORDO:280282 HLD2 PMLD1 Pelizaeus-Merzbacher-Like disease, 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation rgd_disease_ontology DOID:0060787 hypomyelinating leukodystrophy 2 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO) PMID:15192806 PMID:18094336 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO) MIM:616420 MONDO:0014632 ORDO:481152 HLD10 rgd_disease_ontology DOID:0060788 hypomyelinating leukodystrophy 10 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO) PMID:25865492 PMID:27130255 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO) MIM:612233 HSPD1-RELATED CONDITION MESH:C567390 ORDO:280288 HLD4 MITCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy rgd_disease_ontology DOID:0060789 hypomyelinating leukodystrophy 4 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO) PMID:18571143 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO) AIMP1-related condition MESH:C536319 MIM:260600 MONDO:0009843 ORDO:280293 HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 leukodystrophy, hypomyelinating, 3 perinatal sudanophilic leukodystrophy rgd_disease_ontology DOID:0060790 hypomyelinating leukodystrophy 3 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO) PMID:21092922 PMID:24958424 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO) MIM:616140 MONDO:0014506 ORDO:438114 HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy RARS1-RELATED CONDITION rgd_disease_ontology DOID:0060791 hypomyelinating leukodystrophy 9 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO) PMID:24777941 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO) POLR1C-RELATED CONDITION POLR1C-related disorder POLR1C-related disorders MIM:616494 MONDO:0014666 4H leukodystrophy 3 HLD11 rgd_disease_ontology DOID:0060792 hypomyelinating leukodystrophy 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO) PMID:26151409 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO) ICD10CM:G37.8 MESH:C567166 MIM:610532 MONDO:0012514 ORDO:85163 HLD5 HYCC1-RELATED CONDITION hypomyelination and congenital cataract hypomyelination and congenital cataract: HCC hypomyelination-congenital cataract syndrome rgd_disease_ontology DOID:0060793 hypomyelinating leukodystrophy 5 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO) PMID:16951682 PMID:17683097 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO) DOID:9005213 POLR3A-RELATED CONDITION POLR3A-RELATED DISORDER POLR3A-RELATED DISORDERS POLR3A-RELATED NEUROLOGICAL DISORDER ICD10CM:G11.1 MESH:C564344 MESH:C567313 MIM:607694 MONDO:0019505 NCI:C210817 ORDO:137639 ORDO:447893 ORDO:447896 ORDO:77295 ORDO:88637 4H leukodystrophy 1 4H syndrome ADDH Dysmyelinating Leukodystrophy with Oligodontia HLD7 POL III-related leukodystrophy POLR3-related leukodystrophy TACH syndrome ataxia, delayed dentition, and hypomyelination ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism hypomyelinating leukoencephalopathy with ataxia and delayed dentition hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome rgd_disease_ontology DOID:0060794 hypomyelinating leukodystrophy 7 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO) PMID:12605447 PMID:21855841 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO) MIM:616881 MONDO:0014813 ORDO:495844 HIKESHI-RELATED CONDITION HLD13 rgd_disease_ontology DOID:0060795 hypomyelinating leukodystrophy 13 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO) PMID:26545878 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO) OMIA:002152 VPS11-RELATED CONDITION MIM:616683 ORDO:466934 HLD12 neuroaxonal dystrophy, VPS11-related rgd_disease_ontology DOID:0060796 hypomyelinating leukodystrophy 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO) PMID:26307567 PMID:27120463 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO) DOID:9003813 POLR3B-RELATED DISORDERS POLR3B-related condition MESH:C535353 MIM:614381 MONDO:0013722 NCI:C180850 ORDO:85186 4H leukodystrophy 2 HLD8 cerebellar hypoplasia with endosteal sclerosis endosteal sclerosis-cerebellar hypoplasia syndrome hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism rgd_disease_ontology DOID:0060797 hypomyelinating leukodystrophy 8 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO) PMID:22036171 PMID:22036172 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO) TUBB4A-related condition MESH:C567314 MIM:612438 MONDO:0012905 NCI:C183310 ORDO:139441 H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum rgd_disease_ontology DOID:0060798 hypomyelinating leukodystrophy 6 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO) PMID:23582646 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO) DOID:0080713 GARD:9781 MESH:C537723 MIM:300260 MONDO:0010283 NCI:C126747 ORDO:1762 ORDO:85281 Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent infections syndrome X-linked mental retardation with recurrent respiratory infections X-linked mental retardation, Lubs type XLMR syndrome, Lubs type syndromic X-linked intellectual developmental disorder, Lubs type syndromic X-linked mental retardation, Lubs type trisomy Xq28 rgd_disease_ontology DOID:0060799 syndromic X-linked intellectual disability Lubs type A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO) PMID:15689435 PMID:20425814 https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO) AP1S2-related condition MESH:C535773 MESH:C564470 MIM:304340 MONDO:0010574 NCI:C124839 ORDO:1568 ORDO:85335 Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures Fried syndrome MRX59 MRXS21 MRXS5 MRXSF PGS Pettigrew syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures mental retardation, X-linked 59 mental retardation, X-linked syndromic 21 mental retardation, X-linked syndromic 5 mental retardation, X-linked syndromic, Fried type rgd_disease_ontology DOID:0060800 syndromic X-linked intellectual disability 5 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO) PMID:19377476 PMID:23756445 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO) MESH:C537451 MIM:300148 MONDO:0010258 ORDO:85282 Borck type of X-linked syndromic mental retardation EIF2S3-RELATED CONDITION MEHMO MRXS20 MRXS25 MRXSBRK X-linked MEHMO syndrome X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome X-linked mental retardation, syndromic, Borck type X-linked syndromic mental retardation 20 X-linked syndromic mental retardation 25 mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity rgd_disease_ontology DOID:0060801 MEHMO syndrome A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO) PMID:12032729 PMID:9781023 A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO) MIM:309583 GARD:5615 MESH:C536678 ORDO:3063 MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE MRXSSR SMS-RELATED CONDITION SMS-RELATED DISORDER SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome X-linked mental retardation, Snyder-Robinson type spermine synthase deficiency syndromic X-linked intellectual developmental disorder, Snyder-Robinson type rgd_disease_ontology DOID:0060802 syndromic X-linked intellectual disability Snyder type A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO) PMID:14508504 PMID:23696453 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO) rgd 2017-10-24T00:00:00Z MIM:300858 ORDO:289483 MRXS17 X-linked mental retardation with alacrima and achalasia intellectual disability-alacrima-achalasia syndrome syndromic X-linked intellectual developmental disorder 17 syndromic X-linked mental retardation 17 rgd_disease_ontology DOID:0060803 syndromic X-linked intellectual disability 17 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO) PMID:21744492 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO) MESH:C564106 MIM:309545 MONDO:0010658 ORDO:85290 MRXS12 X-linked intellectual disability, Wilson type syndromic X-linked intellectual developmental disorder 12 syndromic X-linked mental retardation 12 rgd_disease_ontology DOID:0060804 syndromic X-linked intellectual disability 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO) PMID:1357179 A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO) MESH:C535274 MIM:309610 MONDO:0010667 ORDO:2958 MRXS2 PRS Prieto X-linked mental retardation syndrome Prieto-Badia-Mulas syndrome WNK3-RELATED CONDITION X-linked dysmorphic syndrome with mental retardation X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome X-linked mental retardation, syndromic 2 X-linked mental retardation, with dysmorphism and cerebral atrophy rgd_disease_ontology DOID:0060805 Prieto syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO) PMID:1673297 PMID:3121220 A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO) MIM:300423 MESH:C564516 ORDO:93952 MRXE MRXSH X-linked mental retardation with epilepsy syndromic X-linked intellectual developmental disorder, Hedera type syndromic X-linked mental retardation, Hedera type rgd_disease_ontology DOID:0060806 syndromic X-linked intellectual disability Hedera type A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO) PMID:11782983 PMID:15746149 A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO) CASK-RELATED CONDITION CASK-RELATED DISORDER INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED EFO:0010954 GARD:12669 MESH:C567466 MIM:300749 MONDO:0010417 ORDO:163937 MICPCH MICPCH syndrome MRXSNA Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia syndromic X-linked mental retardation, Najm type rgd_disease_ontology DOID:0060807 syndromic X-linked intellectual disability Najm type A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO) PMID:19165920 PMID:21954287 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO) GARD:9156 MESH:C537449 MIM:300218 MONDO:0010270 ORDO:85274 Ahmad X-linked mental retardation syndrome MRXS7 X-linked intellectual disability, Ahmad type syndromic X-linked intellectual developmental disorder 7 syndromic X-linked mental retardation 7 rgd_disease_ontology DOID:0060808 syndromic X-linked intellectual disability 7 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO) PMID:10573017 A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO) MESH:C564494 MIM:300534 MONDO:0010355 ORDO:85279 KDM5C-RELATED DISORDER KDM5C-related condition MRXS16 MRXSCJ MRXSJ syndromic X-linked intellectual developmental disorder 16 syndromic X-linked intellectual developmental disorder, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation 16 syndromic X-linked mental retardation, Claes-Jensen type syndromic X-linked mental retardation, JARID1C-related rgd_disease_ontology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO) PMID:10982473 PMID:15586325 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO) MIM:300438 ICD10CM:G25.5 MESH:C564560 ORDO:391417 ORDO:85295 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 17beta-hydroxysteroid dehydrogenase type 10 deficiency 2-Methyl-3-Hydroxybutyric Aciduria 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency 3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency CAMR Chorioathetosis With Mental Retardation And Abnormal Behavior HSD10 MITOCHONDRIAL DISEASE HSD10 deficiency, atypical type HSD10 disease, atypical type HSD10MD HSD17B10 Deficiency HSD17B10-RELATED CONDITION HSD17B10-RELATED DISORDER Hydroxyacyl-CoA Dehydrogenase II Deficiency MHBD deficiency MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome hydroxyacyl-CoA dehydrogenase type 2 deficiency syndromic X-linked mental retardation 10 rgd_disease_ontology DOID:0060810 syndromic X-linked intellectual disability type 10 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO) PMID:10521307 PMID:17236142 A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO) DOID:0060829 MIM:300612 MIM:309590 HUWE1-RELATED NEURODEVELOPMENTAL DISORDER HUWE1-related disorder MESH:C563154 MESH:C567476 ORDO:3056 ORDO:85328 Brooks-Wisniewski-Brown syndrome HUWE1-RELATED CONDITION JMS Juberg-Marsidi mental retardation syndrome Juberg-Marsidi syndrome MRXS-Turner MRXSBWB MRXST X-linked intellectual developmental disorder, Turner type X-linked intellectual disability, Brooks type X-linked mental retardation with growth delay, deafness, microgenitalism X-linked mental retardation with growth retardation, deafness, and microgenitalism mental retardation and macrocephaly syndrome syndromic X-linked intellectual developmental disorder, Turner type syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type syndromic X-linked mental retardation, Turner type rgd_disease_ontology DOID:0060811 syndromic X-linked intellectual disability Turner type A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO) PMID:18252223 PMID:7943042 A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO) MIM:300263 MESH:C537333 ORDO:85287 MRXSSD PHF8-RELATED CONDITION Siderius Hamel syndrome Siderius X-linked mental retardation syndrome X-linked mental retardation syndrome, Siderius type syndromic X-linked intellectual developmental disorder, Siderius type syndromic X-linked mental retardation, Siderius type rgd_disease_ontology DOID:0060812 syndromic X-linked intellectual disability Siderius type A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO) PMID:10398231 PMID:16199551 A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO) MIM:300709 MESH:C567474 ORDO:85324 MRXS9 syndromic X-linked intellectual developmental disorder 9 syndromic X-linked mental retardation 9 rgd_disease_ontology DOID:0060813 syndromic X-linked intellectual disability Shrimpton type A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO) PMID:10331611 PMID:10797443 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO) MIM:309585 GARD:5579 MESH:C536708 ORDO:3459 LAS1L-RELATED CONDITION MRXS6 MRXSWT WTS Wilson Turner mental retardation syndrome Wilson-Turner X-linked mental retardation syndrome X-linked intellectual disability-gynecomastia-obesity syndrome X-linked mental retardation, with gynecomastia and obesity syndromic X-linked intellectual developmental disorder, Wilson-Turner type syndromic X-linked mental retardation 6 rgd_disease_ontology DOID:0060814 Wilson-Turner syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO) PMID:1746601 PMID:25644381 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO) MESH:C536703 MIM:314580 MIM:PS314580 MONDO:0025445 ORDO:3454 ORDO:85283 MCS MRXS4 Miles-Carpenter X-linked mental retardation syndrome Miles-Carpenter syndrome WRWF Wieacker-Wolff syndrome (spectrum) X-linked intellectual disability, Miles-Carpenter type X-linked mental retardation with congenital contractures and low fingertip arches ZC4H2-RELATED CONDITION ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY contractures of feet, muscle atrophy, and oculomotor apraxia oculomotor apraxia, with congenital contractures and muscle atrophy syndromic X-linked mental retardation 4 rgd_disease_ontology DOID:0060815 Wieacker-Wolff syndrome A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO) PMID:2018061 A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO) MESH:C564509 MIM:300472 MONDO:0010333 ORDO:52055 Graham-Cox syndrome IGBP1-related condition MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 MRXS28 agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia rgd_disease_ontology DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO) PMID:14556245 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO) NONO-related condition MIM:300967 MONDO:0010501 ORDO:466791 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome syndromic X-linked intellectual developmental disorder 34 syndromic X-linked mental retardation 34 rgd_disease_ontology DOID:0060817 syndromic X-linked intellectual disability 34 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO) PMID:26571461 A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO) MIM:300262 MESH:C535556 ORDO:85273 MRXSAB X-linked mental retardation, Abidi type short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes syndromic X-linked intellectual developmental disorder, Abidi type syndromic X-linked mental retardation Abidi type rgd_disease_ontology DOID:0060818 syndromic X-linked intellectual disability Abidi type A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO) PMID:10398233 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO) rgd 2017-10-24T00:00:00Z MIM:300861 MONDO:0010462 MRXSCS X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type syndromic X-linked mental retardation, Chudley-Schwartz type rgd_disease_ontology DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO) PMID:10398239 A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO) MIM:300860 NCI:C202069 ORDO:163956 MRXS30 MRXSN Nascimento form of syndromic X-linked intellectual developmental disorder UBE2A-RELATED CONDITION X-linked intellectual disability-nail dystrophy-seizures syndrome syndromic X-linked intellectual developmental disorder, Nascimento type syndromic X-linked mental retardation 30 syndromic X-linked mental retardation, Nascimento type rgd_disease_ontology DOID:0060820 syndromic X-linked intellectual disability Nascimento type A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO) PMID:16909393 PMID:20412111 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO) rgd 2017-11-06T00:00:00Z MIM:300676 MESH:C567063 ORDO:776 MRXS14 syndromic X-linked intellectual developmental disorder 14 syndromic X-linked mental retardation 14 rgd_disease_ontology DOID:0060821 syndromic X-linked intellectual disability 14 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO) PMID:17704778 PMID:22957832 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. (DO) CUL4B-related condition CUL4B-related disorder GARD:13244 MESH:C564527 MESH:C567069 MIM:300354 MONDO:0010306 NCI:C167216 ORDO:85293 CUL4B-RELATED X-LINKED INTELLECTUAL DISABILITY Cabezas X-Linked Mental Retardation Syndrome Cabezas syndrome Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-LINKED INTELLECTUAL DISABILITY CABEZAS TYPE X-linked mental retardation with brachydactyly and macroglossia X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait X-linked mental retardation with short stature, small testes, muscle wasting, and tremor mental retardation, X-linked, syndromic 15 (Cabezas type) syndromic X-linked intellectual developmental disorder, Cabezas type syndromic X-linked mental retardation 15 syndromic X-linked mental retardation, Cabezas type rgd_disease_ontology DOID:0060822 syndromic X-linked intellectual disability Cabezas type A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. (DO) PMID:10978355 PMID:17236139 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO) GRIA3-related disorder ICD10CM:F72 MESH:C567479 MIM:300699 MONDO:0010402 ORDO:364028 GRIA3-RELATED CONDITION MENTAL RETARDATION, X-LINKED, SYNDROMIC 29 MRX94 MRXS29 MRXSW Wu-type X-linked syndromic intellectual developmental disorder X-linked mental retardation 94 disrupted sleep-wake cycle with developmental delay and learning difficulty mental retardation, X-linked, syndromic, Wu type syndromic X-linked intellectual disability due to GRIA3 anomalies rgd_disease_ontology DOID:0060823 syndromic X-linked intellectual disability 94 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO) PMID:17989220 PMID:19449417 PMID:24721225 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO) DOID:9007880 ICD10CM:Q87.8 MESH:C567586 MIM:300799 MONDO:0010427 ORDO:163953 MRXSR X-linked syndromic intellectual developmental disorder Raymond type syndromic X-linked mental retardation, Raymond type syndromic X-linked mental retardation, Zdhhc9-related rgd_disease_ontology DOID:0060824 syndromic X-linked intellectual disability Raymond type A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO) PMID:17436253 PMID:19377476 A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. (DO) DOID:9006932 SLC9A6-related condition GARD:10572 MESH:C537450 MESH:C567484 MIM:300243 MONDO:0010278 NCI:C181001 ORDO:85278 Angelman syndrome-like Christianson type of X-linked syndromic intellectual developmental disorder MRXSCH Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome X-Linked mental retardation, South African type X-linked Angelman-like syndrome X-linked intellectual deficit, South African type X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome syndromic X-linked intellectual developmental disorder, Christianson type syndromic X-linked mental retardation, Christianson type rgd_disease_ontology DOID:0060825 Christianson syndrome A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. (DO) PMID:18342287 PMID:20949524 PMID:25044251 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO) MESH:C537135 MIM:300238 MONDO:0010277 ORDO:85286 MRXS11 MRXSSH SMRXS Shashi X-linked mental retardation syndrome Shashi type of X-linked syndromic intellectual developmental disorder X-linked mental retardation, Shashi type orofaciodigital syndrome, Shashi type syndromic X-linked intellectual disability type 11 syndromic X-linked mental retardation 11 syndromic X-linked mental retardation 11, Shashi type syndromic intellectual developmental disorder 11, Shashi type rgd_disease_ontology DOID:0060826 syndromic X-linked intellectual disability Shashi type A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO) PMID:10677307 PMID:25256757 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO) DOID:9006524 MIM:300055 ICD10CM:F71.1 MESH:C563139 MESH:C564724 MESH:C566876 MESH:C566877 ORDO:3077 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16 Lindsay-Burn syndrome MRX16 MRX79 MRXS13 PPM-X PPMX Ppm-X Syndrome X-linked mental retardation 16 X-linked mental retardation 79 X-linked mental retardation, with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism syndromic X-linked intellectual developmental disorder 13 syndromic X-linked mental retardation 13 rgd_disease_ontology DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO) PMID:10986043 PMID:8651288 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO) MIM:300886 ORDO:324410 MRXS32 syndromic X-linked intellectual developmental disorder 32 syndromic X-linked mental retardation 32 rgd_disease_ontology DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO) PMID:22814392 true A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO) MIM:300519 MESH:C564495 ORDO:85321 MRXSMP Martin-Probst Deafness-Mental Retardation Syndrome Martin-Probst syndrome syndromic X-linked mental retardation, Martin-Probst type rgd_disease_ontology DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO) PMID:11073537 An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO) rgd 2017-01-26T00:00:00Z GARD:10913 MIM:PS214450 ORDO:381 Chediak-Higashi-like syndrome Chédiak-Higashi-like syndrome Griscelli disease Griscelli-Prunieras syndrome Griscelli-Pruniéras syndrome partial albinism-immunodeficiency syndrome rgd_disease_ontology DOID:0060831 Griscelli syndrome An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO) PMID:12452176 PMID:707528 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO) GARD:2566 MESH:C537301 MIM:214450 MONDO:0008962 ORDO:79476 GS1 Griscelli syndrome with neurologic impairment Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurologic type Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 Griscelli-Pruniéras syndrome type 1 MYO5A-RELATED CONDITION Partial albinism and primary neurologic disease without hemophagocytic syndrome hypopigmentation-neurologic impairment syndrome rgd_disease_ontology DOID:0060832 Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO) PMID:12452176 PMID:9207796 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO) GARD:4483 MESH:C537302 MIM:607624 MONDO:0011872 NCI:C111814 ORDO:79477 GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 Griscelli-Pruniéras syndrome type 2 PAID syndrome Partial albinism and immunodeficiency hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome partial albinism with immunodeficiency rgd_disease_ontology DOID:0060833 Griscelli syndrome type 2 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO) PMID:12452176 PMID:707528 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO) GARD:9715 MESH:C537303 MIM:609227 MONDO:0012220 ORDO:79478 GS3 Griscelli-Prunieras syndrome type 3 Griscelli-Pruniéras syndrome type 3 Hypomelanosis with no immunologic or neurologic manifestations MLPH-RELATED CONDITION rgd_disease_ontology DOID:0060834 Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO) PMID:12148598 PMID:12897212 An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO) MIM:613517 ORDO:2542 MCOP6 PRSS56-RELATED CONDITION posterior nonsyndromic microphthalmia rgd_disease_ontology DOID:0060835 isolated microphthalmia 6 An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO) PMID:15823920 PMID:21397065 An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO) MESH:C567757 MIM:613094 MONDO:0013130 MCOP4 rgd_disease_ontology DOID:0060836 isolated microphthalmia 4 An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO) PMID:19129173 An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO) MIM:611040 ICD10CM:Q15.8 MESH:C567024 ORDO:251279 MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen rgd_disease_ontology DOID:0060837 isolated microphthalmia 5 An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO) PMID:17167404 PMID:18554571 PMID:19753314 An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO) ICD10CM:Q11.0 MIM:613704 MCOP7 rgd_disease_ontology DOID:0060838 isolated microphthalmia 7 An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO) PMID:19864492 An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO) MIM:610093 VSX2-RELATED CONDITION MESH:C566446 MCOP2 isolated clinical anophthalmia rgd_disease_ontology DOID:0060839 isolated microphthalmia 2 An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO) PMID:15257456 PMID:3378363 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO) MIM:251600 MESH:C565377 ORDO:2542 MCOP MCOP1 autosomal recessive microphthalmos isolated clinical anophthalmia rgd_disease_ontology DOID:0060840 isolated microphthalmia 1 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO) PMID:9545413 An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO) MIM:615113 ALDH1A3-RELATED CONDITION MCOP8 rgd_disease_ontology DOID:0060841 isolated microphthalmia 8 An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO) PMID:23312594 PMID:23591992 An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO) MESH:C567025 MIM:611038 MONDO:0012604 MCOP3 RAX-related condition isolated microphthalmia 3 rgd_disease_ontology DOID:0060842 syndromic microphthalmia 16 An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO) PMID:14662654 PMID:18783408 PMID:30811539 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO) GARD:5221 MESH:C536965 MIM:162500 MONDO:0008087 ORDO:640 HNPP compression neuropathy current pressure-sensitive neuropathy familial pressure sensitive neuropathy familial recurrent polyneuropathy hereditary liability to pressure palsies hereditary neuropathy with liability to pressure palsy hereditary pressure sensitive neuropathy heterozygous microdeletion 17p11.2p12 inherited tendency to pressure palsies potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy rgd_disease_ontology DOID:0060843 hereditary neuropathy with liability to pressure palsies A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO) PMID:12682341 PMID:2540008 PMID:8422677 A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO) NDP-RELATED DISORDER NDP-RELATED RETINOPATHIES GARD:7224 MESH:C537849 MIM:310600 MONDO:0010691 NCI:C118634 ORDO:649 Anderson-Warburg syndrome Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Episkopi blindness Fetal Iritis Syndrome ND Norrie syndrome Norrie's disease Norrie-Warburg disease Norrie-Warburg syndrome Oligophrenia Microphthalmus Whitnall-Norman syndrome atrophia bulborum hereditaria pseudoglioma pseudoglioma congenita rgd_disease_ontology DOID:0060844 Norrie disease A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO) PMID:1303235 PMID:13998843 PMID:7627181 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO) GARD:3224 MESH:C537119 MIM:127300 MONDO:0007481 NCI:C126560 ORDO:240 LWD Leri-Weil syndrome Léri-Weill dyschondrosteosis DCO madelung deformity dyschondrosteosis rgd_disease_ontology DOID:0060847 Leri-Weill dyschondrosteosis An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO) PMID:10713888 PMID:21712857 PMID:9590292 https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO) GARD:10806 MESH:C564715 MIM:300088 MONDO:0010246 NCI:C201590 ORDO:101039 ORDO:714652 DEE9 EFMR EIEE9 Juberg-Hellman syndrome convulsive disorder and mental retardation early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female-restricted epilepsy with mental retardation rgd_disease_ontology DOID:0060848 developmental and epileptic encephalopathy 9 A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO) PMID:18469813 PMID:19752159 PMID:20830798 A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO) AUTOSOMAL RECESSIVE LRP5-RELATED DISORDERS GARD:4160 MESH:C536063 MIM:259770 MONDO:0009820 NCI:C130998 ORDO:2788 OPPG OPS ocular form of osteogenesis imperfecta osteogenesis imperfecta, ocular form osteoporosis with pseudoglioma pseudoglioma with bone fragility rgd_disease_ontology DOID:0060849 osteoporosis-pseudoglioma syndrome A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO) PMID:11719191 PMID:20034086 PMID:3955877 A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO) GARD:705 ICD10CM:Q45.1 MESH:C536376 MIM:167750 MONDO:0008183 NCI:C98813 ORDO:675 rgd_disease_ontology DOID:0060850 annular pancreas A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO) PMID:1860255 PMID:677171 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO) MIM:169610 EFO:0004719 GARD:7355 ICD10CM:L10.0 MESH:C536645 NCI:C34910 ORDO:704 familial pemphigus vulgaris rgd_disease_ontology DOID:0060851 pemphigus vulgaris A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO) PMID:2217197 PMID:4577497 A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO) MIM:609049 LAMB2-RELATED DISORDER LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME GARD:9420 MESH:C537185 NCI:C128145 ORDO:2670 congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome microcoria and congenital nephrotic syndrome microcoria-congenital nephrosis syndrome microcoria-congenital nephrotic syndrome rgd_disease_ontology DOID:0060852 Pierson syndrome A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO) PMID:15367484 PMID:15372515 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO) GARD:10145 MESH:C538355 MIM:610883 MONDO:0012574 NCI:C124846 ORDO:1713 17p11.2 microduplication syndrome PTLS Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) chromosome 17, trisomy 17p11 2 chromosome 17p11.2 duplication syndrome duplication 17p11 2 duplication 17p11.2 syndrome trisomy 17p11.2 rgd_disease_ontology DOID:0060853 Potocki-Lupski syndrome A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO) PMID:10615134 PMID:20425816 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO) rgd 2017-10-19T00:00:00Z GARD:4552 NCI:C123251 ORDO:171876 ORDO:756 PHA1B autosomal recessive PHA 1 autosomal recessive pseudohypoaldosteronism type I recessive pseudohypoaldosteronism type I rgd_disease_ontology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO) PMID:10202170 PMID:10404817 PMID:8589714 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO) rgd 2017-10-19T00:00:00Z NR3C2-related condition GARD:9145 MIM:177735 MONDO:0008329 ORDO:171871 PHA1A autosomal dominant PHA 1 pseudohypoaldosteronism, type I, autosomal dominant pseudohypoaldosteronism, type I, dominant rgd_disease_ontology DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO) PMID:9662404 A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO) MIM:208530 GARD:6795 ICD10CM:Q20.6 ORDO:97548 Ivemark syndrome right atrial isomerism with asplenia right atrial isomerisms rgd_disease_ontology asplenia with cardiovascular anomalies DOID:0060856 right atrial isomerism A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO) PMID:14648004 PMID:20413652 A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. (DO) HESX1-related condition GARD:7627 MESH:D025962 MIM:182230 MONDO:0008428 NCI:C85063 ORDO:3157 De Morsier syndrome SOD septo optic dysplasia with growth hormone deficiency septo-optic dysplasia septo-optic dysplasia sequence septooptic dysplasias septooptic dysplasia, mild rgd_disease_ontology DOID:0060857 septooptic dysplasia A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. (DO) PMID:8696006 PMID:9620767 A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO) MIM:606407 ICD10CM:E72.0 MESH:C564710 ORDO:163690 cystinuria with mitochondrial disease HOMOZYGOUS 2p16 DELETION SYNDROME HOMOZYGOUS 2p21 DELETION SYNDROME rgd_disease_ontology DOID:0060858 hypotonia-cystinuria syndrome A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO) ORDO:163690 PMID:11524703 PMID:16385448 PMID:18234729 A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO) EFO:1001418 ICD10CM:A02.0 ICD9CM:003.0 MESH:D012480 MONDO:0000827 ORDO:795 salmonella infection salmonella infections rgd_disease_ontology DOID:0060859 salmonellosis A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO) https://www.cdc.gov/salmonella/general/index.html https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO) MIM:206920 MESH:C537769 ORDO:1106 Anophthalmos-syndactyly MLA OAS SMOC1-RELATED CONDITION anophthalmia Waardenburg syndrome anophthalmia-syndactyly anophthalmia-syndactyly syndrome anophthalmos with limb anomalies ophthalmoacromelic syndrome rgd_disease_ontology DOID:0060861 microphthalmia with limb anomalies A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO) PMID:21194678 PMID:6846395 A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO) rgd 2017-10-31T00:00:00Z DOID:9006003 GARD:92 MESH:C565454 MIM:248300 MONDO:0009552 ORDO:86923 ORDO:87503 ACROERYTHROKERATODERMA MDM Meleda disease PPK, Gamborg-Nielsen type PPKGN PPKNR SLURP1-RELATED CONDITION hereditary palmoplantar keratoderma, Gamborg-Nielsen type keratosis palmoplantaris transgrediens of Siemens palmoplantar keratoderma, Gamborg-Nielsen type palmoplantar keratoderma, Norrbotten recessive type palmoplantar keratoderma, Norrbotten type transgrediens palmoplantar keratoderma of Siemens rgd_disease_ontology DOID:0060862 mal de Meleda A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO) PMID:11285253 PMID:26139149 PMID:9887370 A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO) MESH:C536309 MIM:PS169150 MONDO:0020381 ORDO:63454 ORDO:99001 butterfly dystrophy of retinal pigment epithelium butterfly-shaped pigment dystrophy of the fovea butterfly-shaped pigmentary macular dystrophy patterned dystrophy of retinal pigment epithelium rgd_disease_ontology DOID:0060863 patterned macular dystrophy A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO) PMID:22466463 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO) rgd 2017-10-31T00:00:00Z CTNNA1-related condition MIM:608970 MONDO:0012162 MDPT2 butterfly-shaped pigmentary macular dystrophy 2 butterfly-shaped pigmentary maculary dystrophy 2 rgd_disease_ontology DOID:0060864 patterned macular dystrophy 2 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO) PMID:12724643 PMID:26691986 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO) rgd 2017-05-04T00:00:00Z MIM:617111 ORDO:466718 MAPKAPK3-RELATED CONDITION MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY MDPT3 rgd_disease_ontology DOID:0060865 patterned macular dystrophy 3 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO) PMID:26744326 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO) rgd 2017-10-31T00:00:00Z RDO:9004327 MIM:169150 MDPT1 butterfly-shaped pigmentary maculary dystrophy 1 rgd_disease_ontology DOID:0060866 patterned macular dystrophy 1 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO) PMID:8251014 A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO) MESH:C565342 MIM:605309 MONDO:0011537 ORDO:210548 autism spectrum disorder (ASD) with macrocephaly autism spectrum disorder and macrocephaly macrocephaly-intellectual disability-autism syndrome rgd_disease_ontology DOID:0060867 macrocephaly-autism syndrome A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO) PMID:15805158 PMID:1719811 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO) GARD:231 MESH:C565836 MIM:PS603896 NCI:C122664 ORDO:135 ORDO:157713 ORDO:157716 ORDO:157719 CACH CACH/VWM VANISHING WHITE MATTER DISEASE VWM childhood ataxia with central nervous system hypomyelination childhood ataxia with central nervous system hypomyelinization vanishing white matter leukodystrophy vanishing white matter leukodystrophy with ovarian failure ovarioleukodystrophy rgd_disease_ontology DOID:0060868 leukoencephalopathy with vanishing white matter A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO) PMID:11704758 PMID:11835386 PMID:15136673 https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/ A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO) MIM:605670 GARD:4357 MESH:C565309 NCI:C202070 ORDO:67042 C1QTNF5-RELATED CONDITION LORD late-onset retinal degeneration, autosomal dominant rgd_disease_ontology DOID:0060869 late-onset retinal degeneration A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO) PMID:12944416 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO) OMIA:000307 GROWTH HORMONE DEFICIENCY EFO:1001109 GARD:12556 ICD9CM:253.3 MESH:D004393 MIM:PS262400 NCI:C34555 ORDO:631 Growth Hormone Deficiency Dwarfism Hypophysial Dwarf Hyposomatotrophic Dwarfism IGHD Isolated GH Deficiency Isolated HGH Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Isolated Somatotropin Deficiency Disorder Pituitary Dwarf congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency pituitary dwarfism pituitary nanism rgd_disease_ontology DOID:0060870 isolated growth hormone deficiency A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO) PMID:8288694 A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO) ICD10CM:Q80.8 MESH:C536168 MIM:148210 MONDO:0007850 ORDO:477 AUTOSOMAL DOMINANT KERATITIS-ICHTHYOSIS-HEARING LOSS SYNDROME KID syndrome autosomal dominant KID syndrome keratitis, ichthyosis, and deafness (KID) syndrome rgd_disease_ontology DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO) PMID:11912510 PMID:11918723 PMID:3579358 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO) MIM:173100 MESH:C562704 ORDO:231679 AUTOSOMAL DOMINANT ISOLATED SOMATOTROPIN DEFICIENCY IDIOPATHIC GROWTH HORMONE DEFICIENCY TYPE II IGHD II IGHD2 Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II isolated growth hormone deficiency, autosomal dominant rgd_disease_ontology DOID:0060872 isolated growth hormone deficiency type II An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO) PMID:15671105 PMID:8288694 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO) MESH:C537404 MIM:262400 MONDO:0009876 ORDO:231662 ATELEIOTIC DWARFISM IGHD IA IGHD1A ILLIG-type growth hormone deficiency Isolated growth hormone deficiency, type 1b Pituitary Dwarfism 1 Pituitary Dwarfism I isolated growth hormone deficiency, autosomal recessive nanism due to growth hormone isolated deficiency primordial dwarfism sexual ateleiotic dwarfism rgd_disease_ontology DOID:0060873 isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO) PMID:16060904 PMID:8288694 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO) MESH:C567564 MIM:612781 MIM:618157 MONDO:0013006 ORDO:231671 ORDO:684247 GHRHR-RELATED CONDITION IGHD IB IGHD1B ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 4 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh idiopathic growth hormone deficiency rgd_disease_ontology DOID:0060874 isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO) PMID:10678654 PMID:8288694 PMID:8528260 An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO) BTK-RELATED CONDITION GARD:3921 MESH:C537149 MIM:307200 MONDO:0010615 ORDO:231692 ORDO:632 Fleisher syndrome Growth Hormone Deficiency with Hypogammaglobulinemia Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked IGHD III IGHD3 Isolated growth hormone deficiency, type 3 Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked agammaglobulinemia with growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III rgd_disease_ontology DOID:0060875 isolated growth hormone deficiency type III An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO) PMID:8013627 PMID:8288694 An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO) KRT2-related condition GARD:2966 MESH:D053560 MIM:146800 MONDO:0007813 NCI:C84777 ORDO:455 IBS Siemens ichthyosis bullosa bullous type ichthyosis bullous type ichthyosis of Siemens bullous type of ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis ichthyosis exfoliativa rgd_disease_ontology DOID:0060877 bullous congenital ichthyosiform erythroderma An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO) PMID:4247927 PMID:7524919 A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO) MIM:146255 MESH:C537907 NCI:C130983 ORDO:2237 Barakat syndrome GATA3-RELATED CONDITION HDR HDR syndrome HDRS hypoparathyroidism, sensorineural deafness, and renal disease hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome nephrosis, nerve deafness, and hypoparathyroidism rgd_disease_ontology DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO) PMID:10935639 PMID:874665 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO) MESH:C537153 hypomagnesemia EFO:1001029 MESH:D008275 MIM:PS602014 ORDO:34526 HOMG familial hypomagnesemia with hypercalciuria and nephrocalcinosis magnesium deficiencies magnesium deficiency primary familial hypomagnesemia HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING defect in renal tubular transport of magnesium isolated renal hypomagnesemia primary hypomagnesemia due to defect in renal tubular transport of magnesium rgd_disease_ontology DOID:0060879 primary hypomagnesemia A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO) PMID:18818955 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO) rgd 2017-10-20T00:00:00Z GARD:2906 MIM:248250 MONDO:0009550 ORDO:31043 CLDN16-RELATED CONDITION FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 rgd_disease_ontology renal hypomagnesemia, recessive DOID:0060880 renal hypomagnesemia 3 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO) PMID:10390358 PMID:16501001 A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO) MESH:C536148 MESH:C565423 MIM:248190 MONDO:0009548 ORDO:2196 CLDN19-RELATED CONDITION FHHNC with severe ocular involvement HOMG5 Idiopathic hypercalciuria with bilateral macular colobomata Meier-Blumberg-Imahorn syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboma syndrome renal hypomagnesemia with ocular involvement rgd_disease_ontology renal hypomagnesemia, recessive DOID:0060881 renal hypomagnesemia 5 with ocular involvement A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO) PMID:17033971 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO) MESH:C567127 MIM:611718 MONDO:0012717 ORDO:34527 EGF-RELATED CONDITION HOMG4 normocalciuric renal hypomagnesemia rgd_disease_ontology renal hypomagnesemia, recessive DOID:0060882 renal hypomagnesemia 4 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO) PMID:12584272 PMID:17671655 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO) TRPM6-related condition MESH:C566593 MIM:602014 MONDO:0011176 ORDO:30924 HOMG1 HSH hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemia with secondary hypocalcemia hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia rgd_disease_ontology DOID:0060883 intestinal hypomagnesemia 1 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO) PMID:12032568 PMID:12032570 PMID:18818955 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO) CNNM2-RELATED CONDITION renal hypomagnesemia, dominant GARD:12155 ICD10CM:E83.4 MIM:613882 MONDO:0013480 HOMG6 rgd_disease_ontology DOID:0060884 renal hypomagnesemia 6 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO) PMID:21397062 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO) MIM:154020 renal hypomagnesemia, dominant GARD:3350 MESH:C537152 ORDO:34528 FXYD2-RELATED CONDITION HOMG2 autosomal dominant primary hypomagnesemia with hypocalciuria magnesium loss, isolated renal magnesium wasting, renal rgd_disease_ontology DOID:0060885 renal hypomagnesemia 2 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO) PMID:11062458 PMID:3298795 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO) MIM:300373 MESH:C536053 ORDO:2780 AMER1-RELATED CONDITION OSCS Robinow-Unger syndrome hyperostosis generalisata with striations osteopathia striata cranial sclerosis rgd_disease_ontology DOID:0060886 osteopathia striata with cranial sclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO) PMID:19079258 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO) MIM:602475 EFO:0005895 GARD:9699 MESH:C537143 OPLL rgd_disease_ontology DOID:0060887 ossification of the posterior longitudinal ligament of spine A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO) PMID:27374772 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO) MIM:159595 GARD:12765 ICD10CM:D47.7 MESH:C563551 MESH:C566024 ORDO:420611 MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease transient myeloproliferative disorder of Down syndrome rgd_disease_ontology DOID:0060888 transient myeloproliferative syndrome A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO) PMID:6229618 https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO) CHRM3-related condition GARD:7479 ICD10CM:Q79.4 MESH:D011535 MIM:100100 MONDO:0007032 NCI:C85033 ORDO:2970 EGBRS Eagle-Barrett syndrome Obrinsky syndrome PBS abdominal muscle deficiency syndrome absence of abdominal muscles with urinary tract abnormality and cryptorchidism congenital absence of the abdominal muscles prune belly syndromes triad syndrome rgd_disease_ontology DOID:0060889 prune belly syndrome A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO) PMID:15912376 PMID:22077972 https://en.wikipedia.org/wiki/Prune_belly_syndrome https://www.ncbi.nlm.nih.gov/books/NBK544248/ A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO) rgd 2017-10-20T00:00:00Z ICD10CM:E24.3 ORDO:99889 RDO:9003140 Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor rgd_disease_ontology DOID:0060890 ectopic Cushing syndrome A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO) PMID:27387249 An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO) MIM:615528 NCI:C198608 PARK19A Parkinson disease 19, juvenile-onset Parkinson's disease 19, juvenile-onset juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A PARK19 PARK19B Parkinson disease 19B, early-onset Parkinson's disease 19B, early-onset rgd_disease_ontology DOID:0060891 Parkinson's disease 19A An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO) PMID:22563501 PMID:23211418 PMID:26703368 A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO) ATXN3-RELATED CONDITION MIM:168600 MIM:614251 MIM:619491 MONDO:0008199 ORDO:411602 PD late onset Parkinson disease late onset Parkinson disease, hereditary PARK PARK18 PARK24 rgd_disease_ontology EIF4G1-RELATED CONDITION Parkinson disease 18, autosomal dominant, susceptibility to Parkinson disease 24, autosomal dominant, susceptibility to Parkinson disease, late-onset, susceptibility to Parkinson's disease 18, autosomal dominant, susceptibility to Parkinson's disease, late-onset, susceptibility to DOID:0060892 late onset Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO) PMID:25904081 An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO) rgd 2017-09-12T00:00:00Z juvenile-onset Parkinson disease rgd_disease_ontology DOID:0060893 juvenile-onset Parkinson's disease An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO) PMID:25904081 A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO) rgd 2017-09-12T00:00:00Z MONDO:0017279 ORDO:2828 ORDO:391411 early-onset Parkinson disease young-onset Parkinson disease rgd_disease_ontology DOID:0060894 early-onset Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO) PMID:25904081 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO) MESH:C565324 MIM:605543 MONDO:0011562 NCI:C198604 PARK4 autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Lewy body Parkinson's disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4 rgd_disease_ontology DOID:0060895 Parkinson's disease 4 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO) PMID:14755720 PMID:17251522 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO) ICD10CM:G20 MIM:616840 MONDO:0014796 NCI:C203536 PARK23 VPS13C-RELATED CONDITION autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23 rgd_disease_ontology DOID:0060896 Parkinson's disease 23 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO) PMID:26942284 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO) MIM:614203 MONDO:0013625 NCI:C201520 PARK17 Parkinson disease 17 VPS35-RELATED CONDITION autosomal dominant Parkinson disease 17 rgd_disease_ontology DOID:0060897 Parkinson's disease 17 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO) PMID:21763483 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO) RDO:9000983 MIM:615530 NCI:C203535 PARK20 early-onset Parkinson disease 20 early-onset Parkinson's disease 20 rgd_disease_ontology DOID:0060898 Parkinson's disease 20 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO) PMID:23804563 PMID:23804577 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO) adult-onset dystonia-parkinsonism MESH:C567844 MIM:612953 MONDO:0013060 NCI:C201519 ORDO:199351 PARK14 autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14 rgd_disease_ontology DOID:0060900 Parkinson's disease 14 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO) PMID:18570303 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO) DOID:0050747 MYD88-RELATED CONDITION EFO:0009441 GARD:7872 ICD10CM:C88.0 ICD9CM:273.3 ICDO:9671/3 MESH:D008258 MIM:153600 MIM:610430 MIM:PS153600 MONDO:0000432 NCI:C115212 NCI:C3212 NCI:C80307 ORDO:33226 Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinaemia Waldenstrom macroglobulinemia Waldenstrom's Macroglobulinaemia Waldenstrom's macroglobulinemia Waldenstroms macroglobulinaemia Waldenstroms macroglobulinemia familial Waldenstrom macroglobulinaemia familial Waldenstrom macroglobulinemia familial Waldenstrom's macroglobulinaemia familial Waldenstroms macroglobulinaemia immunocytoma lymphoplasmacytic lymphoma with IgM gammopathy rgd_disease_ontology WM1 WM2 Waldenstrom macroglobulinemia, somatic Waldenstrom macroglobulinemia, susceptibility to, 1 Waldenstrom macroglobulinemia, susceptibility to, 2 DOID:0060901 lymphoplasmacytic lymphoma A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO) PMID:10632755 A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO) RELN-related condition MESH:C537848 MIM:257320 MONDO:0009760 ORDO:89844 LIS2 Norman-Roberts lissencephaly syndrome lissencephaly 2 lissencephaly 2 (Norman-Roberts type) lissencephaly syndrome, Norman-Roberts type rgd_disease_ontology DOID:0060902 Norman-Roberts syndrome A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO) PMID:10973257 PMID:15083694 A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO) MESH:D013927 Blood Clot Blood Clots Thromboses Thrombus rgd_disease_ontology DOID:0060903 thrombosis A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO) https://en.wikipedia.org/wiki/Thrombosis A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO) Fabaceae allergy rgd_disease_ontology DOID:0060904 legume allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO) https://en.wikipedia.org/wiki/Legume An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO) GARD:11003 ICD10CM:N11.8 MIM:614817 NCI:C173626 ORDO:401996 FAN1-RELATED CONDITION KIN KMIN rgd_disease_ontology DOID:0060911 karyomegalic interstitial nephritis An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO) PMID:16678356 PMID:22772369 A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO) mtutaj 2023-11-30T13:38:11Z DOID:9000082 MIM:617439 CRS7 CRS7, DIGENIC craniosynostosis 7, digenic rgd_disease_ontology Craniosynostosis 7, susceptibility to DOID:0060912 craniosynostosis 7 A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO) PMID:23438589 An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO) mtutaj 2023-11-30T13:29:04Z DOID:9004752 MIM:PS256040 MONDO:0009726 ORDO:324977 proteasome-associated autoinflammatory syndromes rgd_disease_ontology DOID:0060913 proteosome-associated autoinflammatory syndrome An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO) PMID:25521013 A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO) mtutaj 2023-11-30T13:45:38Z DOID:9009201 MIM:618048 POMP-RELATED CONDITION PRAAS2 rgd_disease_ontology DOID:0060914 proteosome-associated autoinflammatory syndrome 2 A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO) PMID:29805043 A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO) mtutaj 2023-11-30T13:45:58Z DOID:9003015 MIM:619183 MONDO:0030931 PRAAS4 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 PSMG2-RELATED CONDITION rgd_disease_ontology DOID:0060915 proteosome-associated autoinflammatory syndrome 4 A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO) PMID:30664889 An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM) mtutaj 2023-11-30T13:46:11Z DOID:9009202 MIM:617591 MONDO:0054699 PRAAS3 PSMB4-RELATED CONDITION proteosome-associated autoinflammatory syndrome 3, digenic rgd_disease_ontology DOID:0060916 proteosome-associated autoinflammatory syndrome 3 A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO) mtutaj 2023-11-30T14:05:40Z DOID:9005731 MIM:619477 FSHD3 facioscapulohumeral muscular dystrophy 3, digenic facioscapulohumeral muscular dystrophy type 3 rgd_disease_ontology DOID:0060917 facioscapulohumeral muscular dystrophy 3 A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO) PMID:32467133 A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO) mtutaj 2023-11-30T14:05:57Z DOID:9002013 MIM:619478 MONDO:0030355 FSHD4 facioscapulohumeral muscular dystrophy 4, digenic facioscapulohumeral muscular dystrophy type 4 rgd_disease_ontology DOID:0060918 facioscapulohumeral muscular dystrophy 4 A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO) PMID:27153398 A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO) mtutaj 2023-11-30T13:52:40Z DOID:9009033 MIM:619175 MONDO:0030924 PRAAS5 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 rgd_disease_ontology DOID:0060919 proteosome-associated autoinflammatory syndrome 5 A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO) PMID:31783057 An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO) mtutaj 2023-12-20T20:18:53Z DOID:9008430 MIM:166800 OTSC1 rgd_disease_ontology DOID:0060920 otosclerosis 1 An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO) PMID:9425236 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO) mtutaj 2023-12-20T20:21:12Z DOID:9001381 MIM:605727 MESH:C565302 OTSC2 rgd_disease_ontology DOID:0060921 otosclerosis 2 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO) PMID:11170898 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO) mtutaj 2023-12-20T20:23:02Z DOID:9004993 MESH:C564268 MIM:608244 MONDO:0011999 OTSC3 rgd_disease_ontology DOID:0060922 otosclerosis 3 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO) PMID:17568407 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO) mtutaj 2023-12-20T20:24:16Z DOID:9001658 MIM:611571 MESH:C566914 OTSC4 rgd_disease_ontology DOID:0060923 otosclerosis 4 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO) PMID:16618911 An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO) mtutaj 2023-12-20T20:25:38Z DOID:9004280 MIM:608787 MESH:C563858 OTSC5 rgd_disease_ontology DOID:0060924 otosclerosis 5 An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO) PMID:15173231 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO) mtutaj 2023-12-20T20:26:52Z DOID:9003581 MESH:C566913 MIM:611572 MONDO:0012697 OTSC7 rgd_disease_ontology DOID:0060925 otosclerosis 7 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO) PMID:17213839 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO) mtutaj 2023-12-20T20:28:09Z DOID:9002286 MIM:612096 MESH:C567421 OTSC8 rgd_disease_ontology DOID:0060926 otosclerosis 8 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO) PMID:17568407 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO) mtutaj 2023-12-20T20:29:40Z DOID:9009114 MIM:615589 OTSC10 rgd_disease_ontology DOID:0060927 otosclerosis 10 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO) PMID:21470211 An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO) mtutaj 2023-12-20T20:31:29Z DOID:9008970 MIM:620576 MONDO:0957928 OTSC11 rgd_disease_ontology DOID:0060928 otosclerosis 11 An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO) PMID:34633540 A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO) mtutaj 2023-12-20T20:32:46Z DOID:9007793 MIM:301107 SLITRK2-RELATED CONDITION X-Linked Intellectual Developmental Disorder 111 XLID111 rgd_disease_ontology DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO) PMID:35840571 A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO) mtutaj 2024-01-31T10:29:38Z MESH:D000082602 MIM:PS142700 MONDO:0000158 DDH acetabular dysplasia developmental hip dysplasia rgd_disease_ontology DOID:0060930 developmental dysplasia of the hip A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO) PMID:11246461 A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO) mtutaj 2024-01-31T10:29:54Z DOID:9004340 MIM:142700 MONDO:0007729 DDH1 rgd_disease_ontology DOID:0060931 developmental dysplasia of the hip 1 A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO) PMID:11246461 PMID:16773577 A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO) mtutaj 2024-01-31T10:30:06Z DOID:9001838 MIM:615612 MONDO:0014277 DDH2 rgd_disease_ontology DOID:0060932 developmental dysplasia of the hip 2 A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO) PMID:23716478 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO) mtutaj 2024-02-28T16:10:10Z DOID:9003387 MIM:620535 DEVDFB rgd_disease_ontology DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO) PMID:34112922 PMID:37134193 PMID:37962958 An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO) mtutaj 2024-02-28T16:15:10Z DOID:9009122 MIM:617862 NEDMEBA TRAPPC6B-RELATED CONDITION TRAPPC6B-RELATED NEURODEVELOPMENTAL DISORDER rgd_disease_ontology DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO) PMID:28626029 PMID:31687267 PMID:35150401 PMID:37713627 An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO) mtutaj 2024-02-28T16:18:17Z DOID:9006056 MIM:616900 ORDO:488632 IHPRF3 SYNDROMIC INFANTILE ENCEPHALOPATHY TBCK-RELATED CONDITION TBCK-RELATED DISORDERS TBCK-related intellectual disability syndrome rgd_disease_ontology DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO) PMID:27040691 PMID:27040692 PMID:30103036 A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO) mtutaj 2024-04-01T10:41:35Z DOID:9004049 KMT2B-RELATED DISORDER KMT2B-related condition EFO:0009301 MIM:617284 MONDO:0015004 ORDO:589618 DYT28 rgd_disease_ontology DOID:0060936 dystonia 28, childhood-onset A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO) PMID:27839873 PMID:27992417 A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO) mtutaj 2024-04-01T10:44:19Z DOID:9008352 MIM:619291 MONDO:0025691 DYT30 VPS16-associated disorder VPS16-related condition rgd_disease_ontology DOID:0060937 dystonia 30 A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO) PMID:27174565 PMID:32808683 A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO) mtutaj 2024-04-01T10:44:33Z DOID:9004381 MIM:619565 DYT31 Zech-Boesch syndrome rgd_disease_ontology DOID:0060938 dystonia 31 A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO) PMID:34596301 A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO) mtutaj 2024-04-01T10:44:50Z DOID:9000126 VPS11-RELATED CONDITION MIM:619637 DYT32 rgd_disease_ontology DOID:0060939 dystonia 32 A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO) PMID:33452836 A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO) mtutaj 2024-04-01T10:50:37Z DOID:9007930 MIM:619687 MONDO:0030513 DYT33 rgd_disease_ontology DOID:0060940 dystonia 33 A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO) PMID:33236446 An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO) mtutaj 2024-04-30T17:01:48Z DOID:9002918 MIM:619611 MONDO:0030608 ORDO:2032 ILD1 SFTPA1-RELATED CONDITION rgd_disease_ontology DOID:0060941 interstitial lung disease 1 An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO) PMID:30854216 https://academic.oup.com/hmg/article/25/8/1457/2384565 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO) mtutaj 2024-04-30T17:05:05Z DOID:9005971 MIM:620727 MONDO:0958235 UCMD1B rgd_disease_ontology UCMD1A/1B, DIGENIC ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC DOID:0060942 Ullrich congenital muscular dystrophy 1B An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO) PMID:23622361 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO) mtutaj 2024-04-30T17:27:06Z DOID:9006954 MIM:620728 MONDO:0958236 UCMD1C rgd_disease_ontology DOID:0060943 Ullrich congenital muscular dystrophy 1C An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO) PMID:23622361 A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO) mtutaj 2024-04-01T10:51:11Z DOID:9008127 MIM:620245 MONDO:0859380 EKD3 TMEM151A-RELATED CONDITION rgd_disease_ontology DOID:0060944 episodic kinesigenic dyskinesia 3 A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO) PMID:34518509 An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO) mtutaj 2024-05-01T10:27:46Z DOID:9002275 MIM:620104 MONDO:0031084 AI1K amelogenesis imperfecta, hypoplastic type IK amelogenesis imperfecta, type IK rgd_disease_ontology DOID:0060945 amelogenesis imperfecta type 1K An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO) PMID:33652941 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO) mtutaj 2024-05-01T10:57:12Z DOID:9000534 COL6A1-RELATED CONDITION MIM:254090 MONDO:0009681 UCMD1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT rgd_disease_ontology UCMD1 UCMD1A/1B, DIGENIC ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC Ullrich congenital muscular dystrophy 1 DOID:0060946 Ullrich congenital muscular dystrophy 1A An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO) PMID:23622361 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO) mtutaj 2024-05-01T11:00:09Z MIM:620779 rgd_disease_ontology DOID:0060947 autosomal recessive intellectual developmental disorder 82 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO) PMID:37226891 An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO) mtutaj 2024-06-18T13:13:32Z COL12A1-related condition COL12A1-related disorder MIM:616470 MONDO:0014654 UCMD2 rgd_disease_ontology DOID:0060948 Ullrich congenital muscular dystrophy 2 An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO) PMID:24334604 An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO) mtutaj 2024-06-18T13:25:53Z DOID:9008784 GARD:13202 MESH:C562803 MIM:250620 MONDO:0009603 ORDO:88639 3-hydroxyisobutyryl-CoA hydrolase deficiency Beta-Hydroxyisobutyryl CoA Deacylase Deficiency HIBCH Deficiency HIBCHD Methacrylic Acid Toxicity Methacrylic Aciduria NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY valine metabolic defect rgd_disease_ontology DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO) PMID:24299452 An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO) mtutaj 2024-06-18T13:44:32Z DOID:9000861 MIM:618850 MONDO:0100058 BCAT2-RELATED CONDITION BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY HVLI branched-chain aminotransferase 2 deficiency rgd_disease_ontology DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO) PMID:25653144 An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO) mtutaj 2024-06-18T13:48:12Z DOID:9009199 MIM:618061 MONDO:0054842 DNAJB11-RELATED CONDITION PKD6 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease rgd_disease_ontology DOID:0060951 polycystic kidney disease 6 An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO) PMID:29706351 A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO) mtutaj 2024-06-18T13:54:14Z DOID:9006011 MIM:620056 MONDO:0031062 ALG5-RELATED DISORDER PKD7 rgd_disease_ontology DOID:0060952 polycystic kidney disease 7 A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO) PMID:35896117 A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO) mtutaj 2024-06-18T13:57:23Z DOID:9005698 GARD:13489 MIM:617140 MONDO:0014936 ORDO:500150 SON-RELATED CONDITION ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME ZTTKS Zhu-Tokita-Takenouchi-Kim syndrome rgd_disease_ontology DOID:0060953 ZTTK syndrome A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO) PMID:27545680 A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO) mtutaj 2024-06-18T14:00:11Z DOID:9008492 STAG2-RELATED CONDITION STAG2-related disorder MIM:301043 MONDO:0026763 HPE13 Holoprosencephaly 13 rgd_disease_ontology DOID:0060954 Holoprosencephaly 13, X-linked A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO) PMID:31334757 A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO) mtutaj 2024-04-01T10:54:08Z DOID:9007245 MIM:619921 DYT35 rgd_disease_ontology DOID:0060955 dystonia 35, childhood-onset A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO) PMID:34542157 A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO) mtutaj 2024-04-01T10:55:26Z DOID:9004848 MIM:620427 DYT37 rgd_disease_ontology DOID:0060956 dystonia 37, early-onset with striatal lesions A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO) PMID:36333996 A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO) mtutaj 2024-04-01T10:56:56Z DOID:9004834 KCNN2-RELATED CONDITION MIM:619724 DYT34 rgd_disease_ontology DOID:0060957 myoclonic dystonia 34 A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO) PMID:32212350 An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO) mtutaj 2024-06-18T14:38:04Z DOID:9002841 GARD:13655 MIM:615948 MONDO:0014413 ORDO:434179 C2CD3-RELATED CONDITION OFD14 OROFACIODIGITAL SYNDROME TYPE 14 orofaciodigital syndrome 14 rgd_disease_ontology DOID:0060958 orofaciodigital syndrome XIV An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO) PMID:24997988 An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO) mtutaj 2024-06-18T14:41:49Z DOID:9003244 GARD:3701 MESH:C538585 MIM:252100 MONDO:0009642 ORDO:2751 Mohr Syndrome Oral Facial Digital Syndrome, Type II Oral-facial-digital syndrome, type 2 orofaciodigital syndrome 2 rgd_disease_ontology DOID:0060959 orofaciodigital syndrome II An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO) PMID:27530628 An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO) mtutaj 2024-06-18T14:45:39Z DOID:9000935 MIM:620107 OFD19 OFDS XIX ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX OROFACIODIGITAL SYNDROME 19 rgd_disease_ontology DOID:0060960 orofaciodigital syndrome XIX An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO) PMID:36084634 An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO) mtutaj 2024-06-18T14:50:14Z DOID:9006510 MIM:617927 MONDO:0054770 ORDO:508501 IFT57-RELATED CONDITION OFD18 OFDS XVIII Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome with short stature and brachymesophalangy Oral-facial-digital syndrome, type XVIII Orofaciodigital syndrome type 18 orofaciodigital syndrome 18 rgd_disease_ontology DOID:0060961 orofaciodigital syndrome XVIII An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO) PMID:27060890 An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO) mtutaj 2024-06-18T14:54:26Z DOID:9009195 MIM:620718 MONDO:0958230 OFD20 OROFACIODIGITAL SYNDROME 20 rgd_disease_ontology DOID:0060962 orofaciodigital syndrome XX An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO) PMID:37384395 true A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO) mtutaj 2024-06-18T15:23:37Z DOID:9006321 SMAD2-RELATED CONDITION SMAD2-RELATED DISORDERS MIM:619656 MONDO:0030500 LDS6 rgd_disease_ontology DOID:0060964 Loeys-Dietz syndrome 6 A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO) PMID:30157302 An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO) mtutaj 2024-06-18T15:47:37Z DOID:9006425 COMPLEX NEURODEVELOPMENTAL DISORDER SCN2A-related disorder MIM:618924 MONDO:0030064 EA9 rgd_disease_ontology DOID:0060965 episodic ataxia type 9 An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO) PMID:30928199 A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO) mtutaj 2024-04-01T11:16:44Z DOID:9000446 DYT22 TSPOAP1-RELATED DISORDER dystonia 22 MIM:620453 DYT22JO rgd_disease_ontology DOID:0060966 dystonia 22, juvenile-onset A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO) PMID:33539324 A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO) mtutaj 2024-04-01T11:18:50Z DOID:9004025 TSPOAP1-RELATED DISORDER MIM:620456 DYT22AO rgd_disease_ontology DOID:0060967 dystonia 22, adult-onset A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO) PMID:33539324 A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO) mtutaj 2024-06-21T09:48:07Z DOID:9001132 MIM:620177 MONDO:0859341 HYPT15 rgd_disease_ontology DOID:0060968 hypotrichosis 15 A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO) PMID:32336749 A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO) mtutaj 2024-06-21T09:50:33Z DOID:9004085 MIM:618881 MONDO:0030105 ORDO:570422 GALAC4 GALM deficiency GALM-RELATED CONDITION galactose mutarotase deficiency galactosemia IV galactosemia type 4 rgd_disease_ontology DOID:0060969 galactosemia 4 A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO) PMID:30451973 A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO) mtutaj 2024-06-21T09:54:26Z DOID:9006093 BRD4-RELATED CONDITION MIM:620568 MONDO:0957921 CDLS6 rgd_disease_ontology DOID:0060970 Cornelia de Lange syndrome 6 A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO) PMID:16604071 An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO) mtutaj 2024-06-28T14:21:30Z MIM:178500 MONDO:0800029 ILD2 rgd_disease_ontology MUC5B-RELATED DISORDER DOID:0060971 interstitial lung disease 2 An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO) PMID:32855221 A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO) mtutaj 2024-06-28T15:58:26Z DOID:9005972 MIM:620152 MONDO:0859328 ORDO:73224 HOMG7 RRAGD-RELATED CONDITION HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY rgd_disease_ontology DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO) PMID:34607910 An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO) mtutaj 2024-06-28T16:03:47Z DOID:9006180 MIM:619407 MONDO:0030374 ORDO:420699 CXCR2-RELATED CONDITION WHIMS2 warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2 rgd_disease_ontology DOID:0060973 WHIM syndrome 2 An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO) PMID:24777453 A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO) mtutaj 2024-06-28T16:13:30Z DOID:9007716 MIM:618529 MONDO:0032800 NXN-RELATED CONDITION RRS2 rgd_disease_ontology DOID:0060974 autosomal recessive Robinow syndrome 2 A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO) PMID:29276006 A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO) mtutaj 2024-06-28T16:17:28Z DOID:9006964 MIM:617004 MONDO:0014860 PCLD2 SEC63-RELATED CONDITION polycystic liver disease 2 with or without kidney cysts rgd_disease_ontology DOID:0060975 polycystic liver disease 2 A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO) PMID:24886261 A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO) mtutaj 2024-06-28T16:24:56Z DOID:9009126 ALG8-RELATED DISORDER MIM:617874 MONDO:0054743 PCLD3 polycystic liver disease 3 with or without kidney cysts rgd_disease_ontology DOID:0060976 polycystic liver disease 3 A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO) PMID:28375157 A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO) mtutaj 2024-06-28T16:25:11Z DOID:9009127 MIM:617875 MONDO:0044327 PCLD4 polycystic liver disease 4 with or without kidney cysts POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS rgd_disease_ontology DOID:0060977 polycystic liver disease 4 A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO) PMID:24706814 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. (DO) mtutaj 2024-07-31T14:36:37Z DOID:9009064 MIM:617784 FANCW RFWD3-RELATED CONDITION rgd_disease_ontology DOID:0060978 Fanconi anemia complementation group W A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. (DO) PMID:28691929 A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (DO) mtutaj 2024-07-31T14:39:51Z DOID:9004232 MIM:617883 FANCS rgd_disease_ontology DOID:0060979 Fanconi anemia complementation group S A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (DO) PMID:29133208 A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. (DO) mtutaj 2024-07-31T14:42:17Z DOID:9001771 MIM:174050 MONDO:0008265 Isolated autosomal dominant polycystic liver disease Isolated polycystic liver disease PCLD1 PRKCSH-RELATED CONDITION polycystic liver disease 1 with or without kidney cysts rgd_disease_ontology DOID:0060980 polycystic liver disease 1 A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. (DO) PMID:24886261 A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. (DO) mtutaj 2024-07-31T14:45:17Z DOID:9007689 MIM:620153 MONDO:0859329 MVA4 rgd_disease_ontology DOID:0060981 mosaic variegated aneuploidy syndrome 4 A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. (DO) PMID:34009673 A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. (DO) mtutaj 2024-07-31T14:47:53Z DOID:9006369 MIM:620189 MVA7 mosaic variegated aneuploidy syndrome 7 rgd_disease_ontology DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. (DO) PMID:36322655 A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. (DO) mtutaj 2024-07-31T14:50:35Z DOID:9001723 MIM:618666 MONDO:0020748 ABCG5-related condition STSL2 rgd_disease_ontology DOID:0060983 sitosterolemia 2 A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. (DO) PMID:11099417 A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. (DO) mtutaj 2024-09-30T11:20:56Z DOID:9006803 MIM:620040 MONDO:0031057 DKCD TYMS-RELATED DISORDER dyskeratosis congenita, digenic rgd_disease_ontology DOID:0060984 digenic dyskeratosis congenita A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. (DO) PMID:35931051 A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO) mtutaj 2024-09-30T11:23:03Z DOID:9008310 MESH:C536333 MIM:174700 MONDO:0008272 ORDO:93338 CP1 POLYSYNDACTYLY 4 PPD4 crossed polydactyly type 1 crossed polydactyly type I preaxial polydactyly 4 preaxial polydactyly IV uncomplicated polysyndactyly rgd_disease_ontology DOID:0060985 preaxial polydactyly type IV A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO) PMID:6641002 A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO) mtutaj 2024-09-30T11:26:55Z DOID:9007798 triphalangeal thumb GARD:5289 MIM:174500 ORDO:93336 POLYDACTYLY OF TRIPHALANGEAL THUMB PPD2 TPT TPT-PS syndrome polydactyly of a triphalangeal thumb triphalangeal thumb with polydactyly rgd_disease_ontology DOID:0060986 preaxial polydactyly II A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO) PMID:8012392 A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. (DO) mtutaj 2024-09-30T11:29:40Z DOID:9004978 GLI1-RELATED DISORDER THENAR HYPOPLASIA GARD:4417 MESH:C536332 MIM:174400 ORDO:93339 PPD1 Thumb polydactyly preaxial polydactyly type 1 Fromont Anomaly rgd_disease_ontology DOID:0060987 preaxial polydactyly I A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. (DO) PMID:15405667 A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. (DO) mtutaj 2024-09-30T11:31:14Z DOID:9007770 PTF1A-related condition MIM:615935 MONDO:0014406 PAGEN2 PANCREATIC HYPOPLASIA, CONGENITAL 2 rgd_disease_ontology DOID:0060988 pancreatic agenesis 2 A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. (DO) PMID:24212882 A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. (DO) mtutaj 2024-09-30T11:34:17Z DOID:9009129 MIM:617877 MONDO:0100297 ORDO:261295 SSFSC1 rgd_disease_ontology DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. (DO) PMID:29198724 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. (DO) mtutaj 2024-09-30T11:37:07Z DOID:9001812 MIM:619775 MONDO:0030770 CDDG2 MAN2C1-RELATED DISORDER rgd_disease_ontology DOID:0060990 congenital disorder of deglycosylation 2 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. (DO) PMID:35045343 A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. (DO) mtutaj 2024-09-30T11:13:09Z DOID:9003697 MIM:PS615273 MONDO:0031376 congenital disorders of deglycosylation rgd_disease_ontology DOID:0060991 congenital disorder of deglycosylation A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. (DO) https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO) mtutaj 2024-09-30T12:06:08Z DOID:9001258 GARD:10965 MIM:614592 MONDO:0013815 ORDO:313855 BBDS1 FGFR2-related bent bone dysplasia perinatal lethal bent bone dysplasia DISTINCT BENT BONE DYSPLASIA rgd_disease_ontology DOID:0060992 bent bone dysplasia syndrome 1 A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO) PMID:22387015 A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. (DO) mtutaj 2024-09-30T12:06:23Z DOID:9006726 LAMA5-RELATED CONDITION MIM:620076 MONDO:0859573 BBDS2 rgd_disease_ontology DOID:0060993 bent bone dysplasia syndrome 2 A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. (DO) PMID:33242826 A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. (DO) mtutaj 2024-09-30T12:09:44Z DOID:9002077 ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT MIM:617086 MONDO:0014905 ORDO:485421 EMPF2 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome MFF-RELATED CONDITION MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect rgd_disease_ontology DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. (DO) PMID:26783368 A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. (DO) mtutaj 2024-11-01T15:51:44Z DOID:9003883 MIM:619840 MONDO:0030827 Isolated Macrothrombocytopenia 2, Autosomal Dominant MACTHC2 TUBA8-RELATED CONDITION rgd_disease_ontology DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. (DO) PMID:34704371 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. (DO) mtutaj 2024-11-01T16:01:57Z DOID:9002041 MIM:616903 NUDT15-RELATED CONDITION THPM2 rgd_disease_ontology DOID:0060996 poor metabolism of thiopurines 2 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. (DO) PMID:26878724 A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. (DO) mtutaj 2024-11-01T16:04:39Z DOID:9001988 SMARCA4-RELATED BAFOPATHY SMARCA4-RELATED CONDITION MESH:C567643 MIM:613325 MONDO:0013224 RTPS2 rgd_disease_ontology DOID:0060997 rhabdoid tumor predisposition syndrome 2 A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. (DO) PMID:24752781 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. (DO) mtutaj 2024-11-01T16:08:36Z DOID:9005156 PDE10A-RELATED CONDITION MIM:616922 MONDO:0014835 ORDO:494541 ADSD2 striatal degeneration, autosomal dominant 2 rgd_disease_ontology DOID:0060998 striatal degeneration 2 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. (DO) PMID:27058447 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. (DO) mtutaj 2024-11-01T16:11:22Z DOID:9002828 HADHB-related condition MIM:620300 MONDO:00958185 MTPD2 trifunctional protein deficiency, type 2 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY rgd_disease_ontology DOID:0060999 mitochondrial trifunctional protein deficiency 2 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. (DO) PMID:12754706 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. (DO) mtutaj 2024-11-01T16:29:39Z DOID:9000953 MIM:620398 MONDO:0958192 GCE2 rgd_disease_ontology DOID:0061001 glycine encephalopathy 2 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. (DO) PMID:8005589 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. (DO) mtutaj 2024-11-01T16:31:32Z DOID:9009110 MIM:620481 MONDO:0957575 ORDO:726050 CAMT2 rgd_disease_ontology DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. (DO) PMID:28559357 A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. (DO) mtutaj 2024-11-01T16:33:46Z MIM:260370 MONDO:0024547 PAGEN1 rgd_disease_ontology DOID:0061003 pancreatic agenesis 1 A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. (DO) PMID:20009086 A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. (DO) mtutaj 2024-11-01T16:35:20Z DOID:9006969 MIM:610460 THPM1 TPMT-RELATED CONDITION rgd_disease_ontology DOID:0061004 poor metabolism of thiopurines 1 A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. (DO) PMID:2758725 A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. (DO) mtutaj 2024-11-27T18:37:54Z DOID:9006445 MIM:604498 MONDO:0800452 ORDO:726047 CAMT1 rgd_disease_ontology DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. (DO) PMID:16351641 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. (DO) mtutaj 2024-11-27T20:17:31Z DOID:9004338 MIM:620015 MONDO:0031044 Advanced Sleep Phase Syndrome 4, Familial FASPS4 rgd_disease_ontology DOID:0061006 advanced sleep phase syndrome 4 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. (DO) PMID:31138685 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. (DO) mtutaj 2024-11-27T20:20:42Z DOID:9001737 MIM:619523 MONDO:0030436 SIDBA5 rgd_disease_ontology DOID:0061007 sideroblastic anemia 5 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. (DO) PMID:32634119 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. (DO) mtutaj 2024-11-27T20:23:23Z DOID:9003835 ZIC1-RELATED CONDITION MIM:616602 MONDO:0014705 ORDO:672985 CRS6 rgd_disease_ontology DOID:0061008 craniosynostosis 6 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. (DO) PMID:26340333 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. (DO) mtutaj 2024-11-27T20:25:26Z DOID:9004512 GARD:5538 MESH:C565753 MIM:604757 MONDO:0011481 ORDO:1541 CRS2 CSB Warman-Mulliken-Hayward syndrome craniosynostosis, Boston-type craniosynostosis, Warman-type craniosynostosis, type 2 rgd_disease_ontology DOID:0061009 craniosynostosis 2 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. (DO) PMID:23438589 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO) mtutaj 2024-11-27T20:30:12Z MIM:123100 MONDO:0007399 CRS1 TWIST1-related craniosynostosis craniosynostosis type 1 rgd_disease_ontology DOID:0061010 craniosynostosis 1 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO) PMID:23438589 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. (DO) mtutaj 2024-11-27T20:38:32Z DOID:9002862 TCF12-RELATED CONDITION TCF12-RELATED DISORDER MIM:615314 MONDO:0014128 ORDO:672979 CRS3 TCF12-RELATED CRANIOSYNOSTOSIS coronal craniosynostosis rgd_disease_ontology DOID:0061011 craniosynostosis 3 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. (DO) PMID:23438589 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. (DO) mtutaj 2024-11-27T21:41:32Z DOID:9004470 MIM:600775 MONDO:0010929 ORDO:647681 CRS4 rgd_disease_ontology DOID:0061012 craniosynostosis 4 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. (DO) PMID:23438589 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. (DO) mtutaj 2024-11-27T21:44:26Z DOID:9000760 MIM:619665 MONDO:0030506 ODG9 rgd_disease_ontology DOID:0061013 ovarian dysgenesis 9 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. (DO) PMID:34697795 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO) mtutaj 2024-11-27T21:46:58Z DOID:9002412 MIM:619834 MONDO:0030736 ODG10 rgd_disease_ontology DOID:0061014 ovarian dysgenesis 10 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO) PMID:34402903 A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. (DO) mtutaj 2024-12-19T11:05:13Z DOID:9008262 MIM:301041 NCI:C198578 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED WRWFFR rgd_disease_ontology DOID:0061015 female-restricted Wieacker-Wolff syndrome A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. (DO) PMID:31206972 A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. (DO) mtutaj 2024-12-19T11:13:33Z DOID:9009240 MIM:618160 MONDO:0032569 CPHD7 IGHD5 RNPC3-related disorder isolated growth hormone deficiency type V isolated growth hormone deficiency, type 5 rgd_disease_ontology DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. (DO) PMID:33650182 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. (DO) mtutaj 2024-12-19T11:17:23Z DOID:9008403 GARD:10604 MESH:C567492 MIM:262700 MONDO:0009880 ORDO:85442 CPHD4 LHX4-RELATED CONDITION combined pituitary hormone deficiency with or without cerebellar defects short stature, pituitary and cerebellar defects, and small sella turcica short stature-pituitary and cerebellar defects-small sella turcica syndrome rgd_disease_ontology DOID:0061017 combined pituitary hormone deficiency 4 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. (DO) PMID:17527005 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. (DO) mtutaj 2024-12-19T11:20:42Z DOID:9005178 MIM:620303 MONDO:00957208 CPHD8 Combined Pituitary Hormone Deficiency 8 rgd_disease_ontology DOID:0061018 combined or isolated pituitary hormone deficiency 8 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. (DO) PMID:28402530 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. (DO) mtutaj 2024-12-19T11:24:38Z DOID:9005344 POU1F1-related condition MESH:C567803 MIM:613038 MONDO:0024464 CPHD1 Combined Pituitary Hormone Deficiency 1 combined pituitary hormone deficiency, dominant/recessive rgd_disease_ontology DOID:0061019 combined or isolated pituitary hormone deficiency 1 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. (DO) PMID:34270938 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. (DO) mtutaj 2024-12-19T11:26:35Z DOID:9008340 PROP1-related condition MESH:C563172 MIM:262600 MONDO:0009878 CPHD2 Hanhart dwarfism ateliotic dwarfism with hypogonadism combined pituitary hormone deficiency type 2 pituitary dwarfism III rgd_disease_ontology combined pituitary hormone deficiency, recessive DOID:0061020 combined pituitary hormone deficiency 2 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. (DO) PMID:9462743 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. (DO) mtutaj 2024-12-19T11:41:12Z DOID:9004924 LHX3-related condition GARD:10603 MESH:C536710 MIM:221750 MONDO:0009091 ORDO:231720 COMBINED PITUITARY HORMONE DEFICIENCY TYPE 3 CPHD3 NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY WITH SPINE ABNORMALITIES Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome Sensorineural deafness with Pituitary dwarfism Winkelman-Bethge-Pfeiffer syndrome combined pituitary hormone deficiency with rigid cervical spine rgd_disease_ontology DOID:0061021 combined pituitary hormone deficiency 3 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. (DO) PMID:10835633 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. (DO) mtutaj 2024-12-19T11:43:49Z DOID:9005891 MIM:613986 MONDO:0013518 COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT CPHD6 rgd_disease_ontology DOID:0061022 combined pituitary hormone deficiency 6 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. (DO) PMID:18728160 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO) mtutaj 2024-12-19T11:46:08Z DOID:9002363 MIM:619691 MONDO:0030517 TTD8 rgd_disease_ontology DOID:0061023 nonphotosensitive trichothiodystrophy 8 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO) PMID:33909043 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. (DO) mtutaj 2024-12-19T11:48:33Z DOID:9004318 MIM:619692 MONDO:0030518 TTD9 rgd_disease_ontology DOID:0061024 nonphotosensitive trichothiodystrophy 9 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. (DO) PMID:33909043 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (DO) mtutaj 2025-01-31T18:26:50Z DOID:9000303 MIM:619433 KIF20A-RELATED CONDITION RCM6 restrictive cardiomyopathy 6 rgd_disease_ontology DOID:0061025 familial restrictive cardiomyopathy 6 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (DO) PMID:29357359 A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. (DO) mtutaj 2025-01-31T18:28:40Z DOID:9000212 GARD:4619 MESH:C563004 MIM:266140 MONDO:0009948 ORDO:98867 HPP rgd_disease_ontology DOID:0061026 hereditary pyropoikilocytosis A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. (DO) PMID:1191563 A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. (DO) mtutaj 2025-01-31T18:31:53Z DOID:9004102 MIM:126800 DURS1 Duane retraction syndrome type 1 Duane syndrome type 1 rgd_disease_ontology DOID:0061027 Duane retraction syndrome 1 A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. (DO) PMID:10577917 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. (DO) mtutaj 2025-01-31T18:32:05Z DOID:9003590 MIM:604356 CHN1-RELATED CONDITION DURS2 Duane retraction syndrome type 2 Duane syndrome type 2 rgd_disease_ontology DOID:0061028 Duane retraction syndrome 2 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. (DO) PMID:20034095 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO) mtutaj 2025-01-31T18:32:15Z DOID:9005360 MAFB-related condition MIM:617041 MONDO:0014880 DURS3 Duane retraction syndrome 3 with or without deafness Duane retraction syndrome type 3 Duane syndrome type 3 rgd_disease_ontology DOID:0061029 Duane retraction syndrome 3 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO) PMID:27181683 A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. (DO) mtutaj 2025-01-31T18:32:34Z GARD:10418 MONDO:0018660 NCI:C3093 ORDO:448 rgd_disease_ontology DOID:0061030 hemophilia A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. (DO) https://medlineplus.gov/hemophilia.html https://www.nhlbi.nih.gov/health/bleeding-disorders/types An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. (DO) mtutaj 2025-03-03T17:11:06Z DOID:9009194 TLK2-related condition TLK2-related neurodevelopmental disorder MIM:618050 MONDO:0054837 ORDO:720321 INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 57 MRD57 autosomal dominant mental retardation 57 rgd_disease_ontology DOID:0061031 autosomal dominant intellectual developmental disorder 57 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. (DO) PMID:29861108 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. (DO) mtutaj 2025-03-03T17:16:55Z DOID:9000141 SET-related condition MIM:618106 MONDO:0020847 Autosomal Dominant Mental Retardation 58 INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 58 MRD58 rgd_disease_ontology DOID:0061032 autosomal dominant intellectual developmental disorder 58 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. (DO) PMID:29688601 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. (DO) mtutaj 2025-03-03T17:18:31Z DOID:9005810 CAMK2G-related condition MIM:618522 MONDO:0032795 MRD59 autosomal dominant mental retardation 59 intellectual developmental disorder 59 rgd_disease_ontology DOID:0061033 autosomal dominant intellectual developmental disorder 59 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. (DO) PMID:30184290 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. (DO) mtutaj 2025-03-03T17:20:21Z DOID:9005864 MED13-related condition MIM:618009 MONDO:0032485 MRD61 autosomal dominant mental retardation 61 intellectual developmental disorder 61 rgd_disease_ontology DOID:0061034 autosomal dominant intellectual developmental disorder 61 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. (DO) PMID:29740699 An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. (DO) mtutaj 2025-03-03T17:22:02Z DOID:9003710 DLG4-related condition MIM:618793 MONDO:0032919 DLG4-RELATED SYNAPTOPATHY MRD62 autosomal dominant mental retardation 62 intellectual developmental disorder 62 rgd_disease_ontology DOID:0061035 autosomal dominant intellectual developmental disorder 62 An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. (DO) PMID:29460436 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. (DO) mtutaj 2025-03-03T17:23:43Z DOID:9000372 AUTOSOMAL DOMINANT TRIO-RELATED DISORDERS TRIO-related condition TRIO-related disorder MIM:618825 MONDO:0032939 MRD63 autosomal dominant mental retardation 63 with macrocephaly rgd_disease_ontology DOID:0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. (DO) PMID:32109419 An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. (DO) mtutaj 2025-03-03T17:25:51Z DOID:9005687 ZNF292-related condition MIM:619188 MONDO:0030934 MRD64 autosomal dominant mental retardation 64 rgd_disease_ontology DOID:0061037 autosomal dominant intellectual developmental disorder 64 An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. (DO) PMID:31723249 An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. (DO) mtutaj 2025-03-04T09:00:28Z DOID:9008506 KDM4B-related condition MIM:619320 MONDO:0023657 MRD65 autosomal dominant mental retardation 65 rgd_disease_ontology DOID:0061038 autosomal dominant intellectual developmental disorder 65 An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. (DO) PMID:33232677 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. (DO) mtutaj 2025-03-04T09:02:29Z DOID:9001141 MIM:619910 MONDO:0030891 ATP2B1-RELATED DISORDER MRD66 autosomal dominant mental retardation 66 rgd_disease_ontology DOID:0061039 autosomal dominant intellectual developmental disorder 66 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. (DO) PMID:35358416 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. (DO) mtutaj 2025-03-04T09:03:56Z DOID:9007677 GRIA1-related condition MIM:619927 MONDO:0030964 MRD67 autosomal dominant mental retardation 67 rgd_disease_ontology DOID:0061040 autosomal dominant intellectual developmental disorder 67 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. (DO) PMID:35675825 An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. (DO) mtutaj 2025-03-04T09:05:30Z DOID:9005196 KMT2B-RELATED DISORDER KMT2B-related condition MIM:619934 MONDO:0030969 MRD68 autosomal dominant mental retardation 68 rgd_disease_ontology DOID:0061041 autosomal dominant intellectual developmental disorder 68 An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. (DO) PMID:33150406 An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. (DO) mtutaj 2025-03-04T09:07:03Z DOID:9003904 MIM:617863 MONDO:0029465 MRD69 autosomal dominant mental retardation 69 rgd_disease_ontology DOID:0061042 autosomal dominant intellectual developmental disorder 69 An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. (DO) PMID:31020005 An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. (DO) mtutaj 2025-03-04T09:08:21Z DOID:9006951 MIM:620157 MONDO:0859333 MRD70 rgd_disease_ontology DOID:0061043 autosomal dominant intellectual developmental disorder 70 An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. (DO) PMID:32710489 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. (DO) mtutaj 2025-03-04T09:09:49Z DOID:9004011 RFX7-related condition MIM:620330 MONDO:0957228 MRD71 autosomal dominant intellectual developmental disorder 71 rgd_disease_ontology DOID:0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. (DO) PMID:33658631 An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. (DO) mtutaj 2025-03-04T09:11:53Z DOID:9006413 SRRM2-related condition MIM:620439 MONDO:0957397 ORDO:652487 MRD72 intellectual developmental disorder, autosomal dominant 72 rgd_disease_ontology DOID:0061045 autosomal dominant intellectual developmental disorder 72 An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. (DO) PMID:35567594 An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. (DO) mtutaj 2025-03-04T09:13:20Z DOID:9008872 MIM:620450 MONDO:0957536 MRD73 T4ND TAF4-related NDD TAF4-related neurodevelopmental disorder rgd_disease_ontology DOID:0061046 autosomal dominant intellectual developmental disorder 73 An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. (DO) PMID:35904126 An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. (DO) mtutaj 2025-03-04T09:14:57Z DOID:9007587 MIM:620688 MONDO:0958203 MRD74 rgd_disease_ontology DOID:0061047 autosomal dominant intellectual developmental disorder 74 An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. (DO) PMID:37541189 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. (DO) mtutaj 2025-03-04T09:16:44Z DOID:9009247 MIM:620988 DHX9-RELATED DISORDER MRD75 rgd_disease_ontology DOID:0061048 autosomal dominant intellectual developmental disorder 75 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. (DO) PMID:37467750 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. (DO) mtutaj 2025-03-04T09:18:15Z DOID:9005790 DIP2B-related condition MESH:C566980 MIM:136630 MONDO:0007634 intellectual disability, FRA12A type mental retardation, FRA12A type rgd_disease_ontology DOID:0061049 autosomal dominant intellectual developmental disorder type FRA12A An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. (DO) PMID:17236128 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. (DO) mtutaj 2025-03-04T09:21:40Z DOID:9000911 AP2M1-related condition EFO:0010566 MIM:618587 MONDO:0032823 MRD60 autosomal dominant intellectual developmental disorder 60 autosomal dominant mental retardation 60 autosomal dominant mental retardation 60 with seizures intellectual developmental disorder 60 with seizures rgd_disease_ontology DOID:0061050 autosomal dominant intellectual developmental disorder 60 with seizures An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. (DO) PMID:31104773 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. (DO) mtutaj 2025-03-04T09:24:17Z DOID:9004909 MIM:619313 MONDO:0030266 IMD80 MCM10 deficiency immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy immunodeficiency-80 with or without congenital cardiomyopathy rgd_disease_ontology DOID:0061051 immunodeficiency 80 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. (DO) PMID:33712616 A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. (DO) mtutaj 2025-03-04T09:26:29Z DOID:9008093 MIM:619374 MONDO:0030302 ORDO:720371 IMD81 rgd_disease_ontology DOID:0061052 immunodeficiency 81 A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. (DO) PMID:33231617 A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. (DO) mtutaj 2025-03-04T09:27:54Z DOID:9004738 MIM:619381 MONDO:0030308 ORDO:695807 IMD82 immunodeficiency 82 with systemic inflammation rgd_disease_ontology DOID:0061053 immunodeficiency 82 A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. (DO) PMID:33782605 A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (DO) mtutaj 2025-03-04T09:29:36Z DOID:9006187 MIM:619437 MONDO:0030333 ORDO:697385 IMD84 rgd_disease_ontology DOID:0061054 immunodeficiency 84 A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (DO) PMID:34155405 A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. (DO) mtutaj 2025-03-04T09:30:54Z DOID:9001304 MIM:619510 MONDO:0030428 IMD85 immunodeficiency 85 and autoimmunity rgd_disease_ontology DOID:0061055 immunodeficiency 85 A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. (DO) PMID:31263572 A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. (DO) mtutaj 2025-03-04T09:32:49Z DOID:9000868 MIM:619549 MONDO:0030448 IMD86 immunodeficiency 86, mycobacteriosis rgd_disease_ontology DOID:0061056 immunodeficiency 86 A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. (DO) PMID:30127434 A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. (DO) mtutaj 2025-03-04T09:34:53Z DOID:9002508 DEF6-related condition MIM:619573 MONDO:0030457 IMD87 immunodeficiency 87 and autoimmunity rgd_disease_ontology DOID:0061057 immunodeficiency 87 A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. (DO) PMID:32562707 A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. (DO) mtutaj 2025-03-04T09:38:48Z DOID:9000762 MIM:619630 MONDO:0030483 IMD88 immunodeficiency 88, mycobacteriosis, autosomal recessive rgd_disease_ontology DOID:0061058 immunodeficiency 88 A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. (DO) PMID:34160550 A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. (DO) mtutaj 2025-03-04T09:41:00Z DOID:9006139 CARD10-related condition MIM:619632 MONDO:0030484 IMD89 immunodeficiency 89 and autoimmunity rgd_disease_ontology DOID:0061059 immunodeficiency 89 A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. (DO) PMID:32238915 A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. (DO) mtutaj 2025-03-04T09:43:22Z DOID:9003840 MIM:613759 MONDO:0013408 ORDO:306550 FADD deficiency FADD-RELATED CONDITION FADD-RELATED IMMUNODEFICIENCY IMD90 INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction rgd_disease_ontology DOID:0061060 immunodeficiency 90 A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. (DO) PMID:32350755 A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. (DO) mtutaj 2025-03-04T09:46:25Z DOID:9003310 ZNFX1-related condition MIM:619644 MONDO:0030491 IMD91 immunodeficiency 91 and hyperinflammation rgd_disease_ontology DOID:0061061 immunodeficiency 91 A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. (DO) PMID:33876776 A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. (DO) mtutaj 2025-03-04T09:48:11Z DOID:9000365 REL-related condition MIM:619652 MONDO:0030498 ORDO:697394 IMD92 rgd_disease_ontology DOID:0061062 immunodeficiency 92 A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. (DO) PMID:34623332 A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. (DO) mtutaj 2025-03-04T09:49:47Z DOID:9001635 FNIP1-related condition MIM:619705 MONDO:0030528 ORDO:693647 IMD93 immunodeficiency 93 and hypertrophic cardiomyopathy rgd_disease_ontology DOID:0061063 immunodeficiency 93 A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. (DO) PMID:32181500 A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. (DO) mtutaj 2025-03-04T09:51:26Z DOID:9001114 MIM:619750 MONDO:0030681 IMD94 immunodeficiency 94 with autoinflammation and dysmorphic facies rgd_disease_ontology DOID:0061064 immunodeficiency 94 A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. (DO) PMID:33517393 A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. (DO) mtutaj 2025-03-04T09:54:01Z DOID:9006705 HEREDITARY PREDISPOSITION TO INFECTIONS MIM:619773 MONDO:0030692 IMD95 rgd_disease_ontology DOID:0061065 immunodeficiency 95 A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. (DO) PMID:34185153 A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. (DO) mtutaj 2025-03-04T09:55:40Z DOID:9000296 LIG1-related condition MIM:619774 MONDO:0030693 IMD96 rgd_disease_ontology DOID:0061066 immunodeficiency 96 A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. (DO) PMID:30395541 A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. (DO) mtutaj 2025-03-04T10:40:38Z DOID:9004179 MIM:619802 MONDO:0030717 IMD97 immunodeficiency 97 with autoinflammation rgd_disease_ontology DOID:0061067 immunodeficiency 97 A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. (DO) PMID:31554793 A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. (DO) mtutaj 2025-03-04T10:43:04Z DOID:9004058 TLR8-related condition MIM:301078 MONDO:0024777 ORDO:675628 IMD98 INFLTR8 X-linked immunodeficiency 98 with autoinflammation inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8 rgd_disease_ontology DOID:0061068 immunodeficiency 98 A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. (DO) PMID:33512449 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. (DO) mtutaj 2025-03-04T10:45:55Z DOID:9003255 MIM:619846 MONDO:0030728 IMD99 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias rgd_disease_ontology DOID:0061069 immunodeficiency 99 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. (DO) PMID:32484799 A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. (DO) mtutaj 2025-03-04T10:48:36Z DOID:9002124 OAS1-related condition MIM:618042 MONDO:0020840 ORDO:572428 IMD100 PAPHG PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia rgd_disease_ontology DOID:0061070 immunodeficiency 100 A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. (DO) PMID:34145065 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia 1 A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. (DO) mtutaj 2025-03-04T10:52:03Z DOID:9003532 MIM:619872 MONDO:0030813 IMD101 immunodeficiency 101 varicella zoster virus-specific rgd_disease_ontology DOID:0061071 immunodeficiency 101 A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. (DO) PMID:30211253 A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. (DO) mtutaj 2025-03-04T10:55:01Z DOID:9000339 MIM:301082 MONDO:0024781 ORDO:653751 IMD102 rgd_disease_ontology DOID:0061072 immunodeficiency 102 A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. (DO) PMID:33876203 A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. (DO) mtutaj 2025-03-04T10:56:56Z DOID:9009292 MIM:621101 PRLTS7 rgd_disease_ontology DOID:0061073 Perrault syndrome 7 A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. (DO) PMID:39701103 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. (DO) mtutaj 2025-03-04T10:58:34Z DOID:9005579 MIM:619924 MONDO:0800104 ORDO:169157 IMD105 IMMUNODEFICIENCY 105 rgd_disease_ontology DOID:0061074 severe combined immunodeficiency 105 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. (DO) PMID:10700239 A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. (DO) mtutaj 2025-03-04T11:01:57Z DOID:9006471 IFNAR1 deficiency IFNAR1-related condition MIM:619935 MONDO:0030970 IMD106 immunodeficiency 106, susceptibility to viral infections rgd_disease_ontology DOID:0061075 immunodeficiency 106 A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. (DO) PMID:35442418 A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. (DO) mtutaj 2025-03-04T11:04:11Z DOID:9006021 OTULIN-RELATED CONDITION MIM:619986 MONDO:0031030 IMD107 rgd_disease_ontology IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection susceptibility to invasive Staphylococcus aureus infection DOID:0061076 immunodeficiency 107 A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. (DO) PMID:35587511 A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. (DO) mtutaj 2025-03-04T11:06:01Z DOID:9000056 CEBPE-related condition MESH:C564899 MIM:260570 MONDO:0009842 ORDO:566067 IMD108 Pelger-Huet-like anomaly and episodic fever with abdominal pain immunodeficiency-108 with autoinflammation rgd_disease_ontology DOID:0061077 immunodeficiency 108 A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. (DO) PMID:31201888 A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. (DO) mtutaj 2025-03-04T11:25:29Z DOID:9009044 TNFRSF9-related condition MIM:620282 MONDO:0859526 ORDO:664726 IMD109 immunodeficiency 109 with lymphoproliferation immunodeficiency-109 with EBV-induced lymphoproliferation immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation rgd_disease_ontology DOID:0061078 immunodeficiency 109 A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. (DO) PMID:30872117 A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. (DO) mtutaj 2025-03-04T11:27:20Z DOID:9001786 MAP3K14-related condition MIM:620449 MONDO:0957535 ORDO:447731 IMD112 rgd_disease_ontology DOID:0061079 immunodeficiency 112 A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. (DO) PMID:29230214 A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. (DO) mtutaj 2025-03-04T11:29:29Z DOID:9001372 SLC19A1-related condition MIM:620603 MONDO:0957955 IMD114 folate-responsive immunodeficiency 114 rgd_disease_ontology DOID:0061080 immunodeficiency 114 A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. (DO) PMID:36517554 A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. (DO) mtutaj 2025-03-04T11:31:43Z DOID:9005711 RNF31-related condition MIM:620632 MONDO:0957981 IMD115 immunodeficiency 115 with autoinflammation rgd_disease_ontology DOID:0061081 immunodeficiency 115 A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. (DO) PMID:30936877 immunodeficiency 115 with autoinflammation 1 A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. (DO) mtutaj 2025-03-04T11:33:54Z DOID:9006804 MESH:C563824 MIM:608957 MONDO:0012161 ORDO:169085 CD8 Deficiency, Familial CD8A-RELATED CONDITION rgd_disease_ontology SUSCEPTIBILITY TO RESPIRATORY INFECTIONS ASSOCIATED WITH CD8ALPHA CHAIN MUTATION DOID:0061082 immunodeficiency 116 A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. (DO) PMID:26563160 A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. (DO) mtutaj 2025-03-04T11:37:09Z DOID:9005297 MIM:620668 MONDO:0958011 ORDO:699615 IMD117 Immunodeficiency 117, mycobacteriosis, autosomal recessive rgd_disease_ontology DOID:0061083 immunodeficiency 117 A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. (DO) PMID:36736301 A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. (DO) mtutaj 2025-03-04T11:43:24Z DOID:9007628 MIM:301115 MONDO:0958030 IMD118 Immunodeficiency 118, mycobacteriosis Immunodeficiency 118, mycobacteriosis, X-linked recessive rgd_disease_ontology DOID:0061084 immunodeficiency 118 A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. (DO) PMID:37875108 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. (DO) mtutaj 2025-03-04T11:45:15Z DOID:9008882 MIM:620825 MONDO:0970993 ORDO:695191 IMD119 rgd_disease_ontology DOID:0061085 immunodeficiency 119 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. (DO) PMID:30498080 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. (DO) mtutaj 2025-03-04T11:47:27Z MIM:620836 MONDO:0970994 rgd_disease_ontology DOID:0061086 immunodeficiency 120 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. (DO) PMID:31629014 A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. (DO) mtutaj 2025-03-04T11:50:02Z DOID:9008734 MIM:620807 MONDO:0971001 IMD121 immunodeficiency 121 with autoinflammation rgd_disease_ontology DOID:0061087 immunodeficiency 121 A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. (DO) PMID:38503300 A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. (DO) mtutaj 2025-03-04T11:53:22Z DOID:9008917 MIM:620869 MONDO:0971151 IMD122 POLD3-RELATED DISORDER rgd_disease_ontology DOID:0061088 immunodeficiency 122 A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. (DO) PMID:38099988 A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. (DO) mtutaj 2025-03-04T11:55:31Z DOID:9005066 MIM:620901 MONDO:0971177 IMD123 immunodeficiency 123 with HPV-related verrucosis rgd_disease_ontology DOID:0061089 immunodeficiency 123 A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. (DO) PMID:34214472 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. (DO) mtutaj 2025-03-04T11:58:10Z DOID:9007485 MESH:C566970 MIM:611291 MONDO:0012650 ORDO:169079 CERNUNNOS-XLF DEFICIENCY IMD124 Immunodeficiency 124 NHEJ1 Syndrome SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY rgd_disease_ontology DOID:0061090 severe combined immunodeficiency 124 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. (DO) PMID:37703920 A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. (DO) mtutaj 2025-03-04T12:00:56Z DOID:9009224 MIM:620926 MONDO:0975749 IMD125 rgd_disease_ontology DOID:0061091 immunodeficiency 125 A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. (DO) PMID:38701783 A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. (DO) mtutaj 2025-03-04T14:36:11Z DOID:9009233 MIM:620977 IMD127 Immunodeficiency 127, mycobacteriosis, autosomal recessive rgd_disease_ontology DOID:0061092 immunodeficiency 127 A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. (DO) PMID:39198650 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. (DO) mtutaj 2025-03-04T14:38:14Z DOID:9009209 MIM:620983 ORDO:718017 IMD128 rgd_disease_ontology DOID:0061093 immunodeficiency 128 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. (DO) PMID:33529166 A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. (DO) mtutaj 2025-03-04T14:39:57Z DOID:9001570 RHOH-related condition MIM:618307 MONDO:0032666 ORDO:324294 EV4 IMD129 epidermodysplasia verruciformis 4 epidermodysplasia verruciformis, susceptibility to, 4 rgd_disease_ontology DOID:0061094 immunodeficiency 129 A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. (DO) PMID:38775840 true A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. (DO) mtutaj 2025-03-04T14:46:02Z DOID:9005112 MIM:621254 ORDO:730318 IMD133 Immunodeficiency 133 with autoimmunity and autoinflammation immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy rgd_disease_ontology DOID:0061096 immunodeficiency 133 A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. (DO) PMID:39560673 A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. (DO) mtutaj 2025-03-04T14:51:24Z DOID:9009295 MIM:621096 IMD132B rgd_disease_ontology DOID:0061097 immunodeficiency 132B A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. (DO) PMID:39579173 A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. (DO) mtutaj 2025-03-04T14:53:09Z DOID:9005101 RAB23-related condition MIM:201000 MONDO:0008710 CRPT1 RAB23-RELATED CARPENTER SYNDROME rgd_disease_ontology DOID:0061098 Carpenter syndrome 1 A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. (DO) PMID:20358613 A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. (DO) mtutaj 2025-03-04T14:54:29Z DOID:9002469 MEGF8-related condition MIM:614976 MONDO:0013998 CRPT2 MEGF8-RELATED CARPENTER SYNDROME rgd_disease_ontology DOID:0061099 Carpenter syndrome 2 A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. (DO) PMID:23063620 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. (DO) mtutaj 2025-03-04T14:56:33Z DOID:9009299 GARD:3605 MONDO:0007988 ORDO:2514 primary autosomal dominant microcephaly rgd_disease_ontology DOID:0061100 autosomal dominant primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. (DO) PMID:32910914 A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. (DO) mtutaj 2025-03-04T14:59:19Z DOID:9001392 TRAF3-related condition MIM:614849 MONDO:0013920 Herpes Simplex Encephalitis 3 IIAE5 IMD132A TRAF3 HAPLOINSUFFICIENCY rgd_disease_ontology ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 5 Herpes Simplex Encephalitis, Susceptibility To, 3 DOID:0061101 immunodeficiency 132A A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. (DO) PMID:36004314 A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. (DO) mtutaj 2025-03-04T15:02:34Z DOID:9009188 ALPK3-related condition MIM:618052 MONDO:0054838 CMH27 familial hypertrophic cardiomyopathy 27 rgd_disease_ontology DOID:0061102 hypertrophic cardiomyopathy 27 A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. (DO) PMID:26846950 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. (DO) mtutaj 2025-04-02T17:29:24Z DOID:9001993 MIM:617123 MONDO:0014929 RP76 rgd_disease_ontology DOID:0061103 retinitis pigmentosa 76 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. (DO) PMID:27391550 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. (DO) mtutaj 2025-04-02T17:31:52Z DOID:9002289 MIM:620228 MONDO:0859367 RP96 autosomal dominant retinitis pigmentosa 96 rgd_disease_ontology DOID:0061104 retinitis pigmentosa 96 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. (DO) PMID:28549094 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO) mtutaj 2025-04-02T17:36:27Z DOID:9001186 MIM:619845 MONDO:0030797 RP93 rgd_disease_ontology DOID:0061105 retinitis pigmentosa 93 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO) PMID:30267408 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. (DO) mtutaj 2025-04-02T17:40:17Z DOID:9000341 IMPG1-related condition MESH:C537833 MIM:153870 MONDO:0007934 ORDO:251287 BCAMD Concentric Annular Macular Dystrophy MCDCA RP91 benign concentric annular macular dystrophy bull's eye maculopathy rgd_disease_ontology DOID:0061106 retinitis pigmentosa 91 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. (DO) PMID:32817297 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. (DO) mtutaj 2025-04-02T17:44:50Z DOID:9003467 MIM:619614 MONDO:0030619 RP92 rgd_disease_ontology DOID:0061107 retinitis pigmentosa 92 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. (DO) PMID:30085091 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. (DO) mtutaj 2025-04-02T17:46:24Z DOID:9006996 MIM:617460 MONDO:0044320 RP79 rgd_disease_ontology DOID:0061108 retinitis pigmentosa 79 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. (DO) PMID:25190649 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. (DO) mtutaj 2025-04-02T17:48:20Z DOID:9009232 MIM:620996 MONDO:0975840 RP98 rgd_disease_ontology DOID:0061109 retinitis pigmentosa 98 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. (DO) PMID:39191256 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. (DO) mtutaj 2025-04-02T17:50:00Z DOID:9005533 MIM:620422 MONDO:0957314 RP97 rgd_disease_ontology DOID:0061110 retinitis pigmentosa 97 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. (DO) PMID:37012052 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO) mtutaj 2025-04-02T17:51:40Z DOID:9009101 MIM:617781 MONDO:0054708 RETINAL CILIOPATHY DUE TO MUTATION IN THE RETINITIS PIGMENTOSA-1 GENE RP80 rgd_disease_ontology DOID:0061111 retinitis pigmentosa 80 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO) PMID:26359340 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO) mtutaj 2025-04-02T17:53:32Z DOID:9008145 MIM:620102 MONDO:0859308 RP95 rgd_disease_ontology DOID:0061112 retinitis pigmentosa 95 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO) PMID:30377383 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. (DO) mtutaj 2025-04-02T17:56:05Z DOID:9003675 ARHGEF18-related condition MIM:617433 MONDO:0044314 RP78 rgd_disease_ontology DOID:0061113 retinitis pigmentosa 78 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. (DO) PMID:28132693 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. (DO) mtutaj 2025-04-02T17:58:46Z DOID:9009296 MIM:621100 MRT83 rgd_disease_ontology DOID:0061114 autosomal recessive intellectual developmental disorder 83 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. (DO) PMID:39824192 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. (DO) mtutaj 2025-04-02T18:03:09Z DOID:9008218 MIM:254940 MONDO:0800437 CFZS1 rgd_disease_ontology DOID:0061115 Carey-Fineman-Ziter syndrome 1 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. (DO) PMID:27232676 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. (DO) mtutaj 2025-04-02T18:06:58Z DOID:9004768 MIM:619941 MONDO:0100292 CFZS2 rgd_disease_ontology DOID:0061116 Carey-Fineman-Ziter syndrome 2 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. (DO) PMID:39668186 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. (DO) mtutaj 2025-04-02T18:08:20Z DOID:9002768 HARS2-related condition MIM:614926 MONDO:0013972 ORDO:642976 PRLTS2 rgd_disease_ontology DOID:0061117 Perrault syndrome 2 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. (DO) PMID:21464306 An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. (DO) mtutaj 2025-04-02T18:10:52Z DOID:9002900 MUC1-related condition MESH:C536137 MIM:174000 MONDO:0020726 ORDO:88949 ADMCKD1 ADTKD2 AUTOSOMAL DOMINANT MEDULLARY CYSTIC KIDNEY DISEASE WITH OR WITHOUT HYPERURICEMIA MCKD MCKD1 Medullary cystic kidney disease 1 Medullary cystic kidney disease, autosomal dominant medullary type polycystic kidneys tubulointerstitial kidney disease, autosomal dominant, 2 rgd_disease_ontology DOID:0061118 autosomal dominant tubulointerstitial kidney disease 2 An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. (DO) PMID:31488840 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. (DO) mtutaj 2025-04-02T18:23:51Z DOID:9005373 REN-related condition REN-related kidney disease MESH:C567760 MIM:613092 MONDO:0013128 ORDO:217330 ADTKD4 FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 2 HNFJ2 early-onset hyperuricemia, anemia, and progressive kidney failure familial juvenile hyperuricemic nephropathy 2 rgd_disease_ontology DOID:0061119 autosomal dominant tubulointerstitial kidney disease 4 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. (DO) PMID:19664745 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. (DO) mtutaj 2025-04-02T18:40:00Z DOID:9004877 MIM:617056 MONDO:0014891 ADTKD5 HNFJ4 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE 4 familial juvenile hyperuricemic nephropathy 4 rgd_disease_ontology DOID:0061120 autosomal dominant tubulointerstitial kidney disease 5 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. (DO) PMID:27392076 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. (DO) mtutaj 2025-04-02T18:41:26Z DOID:9009302 MIM:621106 MONDO:0976234 ADTKD6 APOA4-related disorder rgd_disease_ontology DOID:0061121 autosomal dominant tubulointerstitial kidney disease 6 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. (DO) PMID:38096951 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. (DO) mtutaj 2025-04-02T18:44:27Z DOID:9007051 UMOD-associated kidney disease UMOD-related condition UMOD-related kidney disease EFO:0008618 MESH:C537696 MESH:C548033 MESH:C563693 MIM:162000 MONDO:0008073 ORDO:88950 ADMCKD2 ADTKD1 FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1 Familial Juvenile Hyperuricemic Nephropathy 1 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria HNFJ1 Hyperuricemic Nephropathy, Familial Juvenile 1 Juvenile Gout MCKD2 Medullary Cystic Kidney Disease 2 familial gout-kidney disease familial gouty nephropathy familial juvenile gouty nephropathy familial nephropathy with gout medullary cystic kidney disease 2, autosomal dominant medullary cystic kidney disease type II uromodulin storage disease uromodulin-associated kidney disease FAMILIAL JUVENILE GOUT rgd_disease_ontology DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. (DO) PMID:31488840 A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36. (DO) mtutaj 2025-04-30T09:58:36Z DOID:9009285 MIM:621080 MONDO:0976135 HETEROTAXY, VISCERAL, 14, AUTOSOMAL HTX14 rgd_disease_ontology DOID:0061123 visceral heterotaxy 14 A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36. (DO) PMID:39513328 An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. (DO) mtutaj 2025-04-30T10:02:34Z DOID:9008854 MIM:620877 MONDO:0971152 DFNB125 HEARING LOSS, AUTOSOMAL RECESSIVE 125 autosomal recessive deafness 125 rgd_disease_ontology DOID:0061124 autosomal recessive nonsyndromic deafness 125 An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. (DO) PMID:33964205 A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. (DO) mtutaj 2025-04-30T10:05:28Z DOID:9009293 MIM:621097 MONDO:0976229 IMD131 rgd_disease_ontology DOID:0061125 immunodeficiency 131 A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. (DO) PMID:36917008 An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. (DO) mtutaj 2025-04-30T10:07:53Z DOID:9003939 RBL2-related condition MIM:619690 MONDO:0859217 BRUWAG rgd_disease_ontology DOID:0061126 Brunet-Wagner neurodevelopmental syndrome An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. (DO) PMID:33980986 A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1. (DO) mtutaj 2025-04-30T10:11:25Z MIM:301148 RP99 rgd_disease_ontology DOID:0061127 retinitis pigmentosa 99 A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1. (DO) PMID:20301590 PMID:25429852 A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. (DO) mtutaj 2025-04-30T10:13:15Z DOID:9000814 MIM:619698 MONDO:0030524 ORDO:662216 ARSK deficiency ARSK-RELATED CONDITION MPS10 MSP type X MUCOPOLYSACCHARIDOSIS, TYPE 10 arylsulfatase K deficiency mucopolysaccharidosis due to ARSK deficiency mucopolysaccharidosis type X rgd_disease_ontology DOID:0061128 mucopolysaccharidosis X A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. (DO) PMID:34916232 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. (DO) mtutaj 2025-04-30T10:46:40Z DOID:9009213 FBXO11-related condition MIM:618089 MONDO:0060760 FBXO11-related NDD FBXO11-related neurodevelopmental disorder IDDFBA rgd_disease_ontology DOID:0061129 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. (DO) PMID:30057029 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. (DO) mtutaj 2025-04-30T10:50:13Z DOID:9005846 MYPLG MIM:620375 MONDO:0957270 ORDO:653725 LGMDR28 Limb-girdle, type 28R MYOPATHY, LIMB-GIRDLE, ADULT-ONSET autosomal recessive limb-girdle muscular dystrophy-28 rgd_disease_ontology DOID:0061130 autosomal recessive limb-girdle muscular dystrophy type 28 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. (DO) PMID:36745799 An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. (DO) mtutaj 2025-04-30T10:52:55Z DOID:9002441 MIM:618848 MONDO:0030014 LGMDR26 autosomal recessive limb-girdle muscular dystrophy-26 rgd_disease_ontology DOID:0061131 autosomal recessive limb-girdle muscular dystrophy type 26 An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. (DO) PMID:31610034 An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO) mtutaj 2025-04-30T10:54:47Z DOID:9008732 LAMA2-RELATED DISORDER LAMA2-RELATED MUSCULAR DYSTROPHY LAMA2-related condition MIM:618138 MONDO:0029136 ORDO:565837 LGMDR23 autosomal recessive limb-girdle muscular dystrophy 23 rgd_disease_ontology DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO) PMID:24957499 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. (DO) mtutaj 2025-04-30T10:57:16Z DOID:9005234 JAG2-related condition MIM:619566 MONDO:0030456 LGMDR27 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 rgd_disease_ontology DOID:0061133 autosomal recessive limb-girdle muscular dystrophy type 27 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. (DO) PMID:33861953 An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. (DO) mtutaj 2025-04-30T10:59:18Z DOID:9006407 MIM:620793 MONDO:0971171 LGMDR29 SNUPN DEFICIENCY MUSCULAR DYSTROPHY rgd_disease_ontology DOID:0061134 autosomal recessive limb-girdle muscular dystrophy type 29 An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. (DO) PMID:38413582 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO) mtutaj 2025-05-30T11:26:59Z DOID:9000264 MIM:616963 MONDO:0014851 HCINF2 Hypercalcemia, Infantile, 2 rgd_disease_ontology DOID:0061135 infantile hypercalcemia 2 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO) PMID:26047794 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. (DO) mtutaj 2025-05-30T11:30:06Z DOID:9007094 CYP24A1-related condition MESH:C562581 MIM:143880 MONDO:0020739 HCINF1 Idiopathic Hypercalcemia of Infancy rgd_disease_ontology DOID:0061136 infantile hypercalcemia 1 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. (DO) PMID:21675912 An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. (DO) mtutaj 2025-05-30T11:32:31Z DOID:9006713 MIM:620174 MONDO:0859340 ORDO:675216 SCA27B spinocerebellar ataxia 27B, late-onset spinocerebellar ataxia type 27B rgd_disease_ontology DOID:0061137 spinocerebellar ataxia 27B An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. (DO) PMID:36516086 A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. (DO) mtutaj 2025-05-30T11:34:18Z DOID:9001005 CTNNA2-related condition MIM:618174 MONDO:0032578 CDCBM9 rgd_disease_ontology DOID:0061138 complex cortical dysplasia with other brain malformations 9 A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. (DO) PMID:30013181 An atherosclerosis of the coronary vasculature. (DO) mtutaj 2025-05-30T11:36:37Z NCI:C35505 rgd_disease_ontology DOID:0061139 coronary atherosclerosis An atherosclerosis of the coronary vasculature. (DO) https://www.ncbi.nlm.nih.gov/books/NBK218744/ A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. (DO) mtutaj 2025-05-30T11:38:16Z rgd_disease_ontology DOID:0061140 ragopathy A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. (DO) https://www.nature.com/articles/s41467-024-50034-4 A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. (DO) mtutaj 2025-05-30T11:38:32Z DOID:9004966 MIM:620316 MONDO:0957217 CAMSAP1-RELATED NEURONAL MIGRATION DISORDER CDCBM12 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 rgd_disease_ontology DOID:0061141 complex cortical dysplasia with other brain malformations 12 A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. (DO) PMID:36283405 A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. (DO) mtutaj 2025-05-30T11:38:49Z DOID:9007250 MIM:620156 MONDO:0859332 CDCBM11 rgd_disease_ontology DOID:0061142 complex cortical dysplasia with other brain malformations 11 A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. (DO) PMID:36228617 A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. (DO) mtutaj 2025-05-30T11:39:07Z DOID:9007534 APC2-related condition MIM:618677 MONDO:0032866 CDCBM10 rgd_disease_ontology DOID:0061143 complex cortical dysplasia with other brain malformations 10 A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. (DO) PMID:31585108 A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO) mtutaj 2025-05-30T11:39:26Z MIM:614563 CDCBM13 rgd_disease_ontology DOID:0061144 complex cortical dysplasia with other brain malformations 13 A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO) PMID:23603762 A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. (DO) mtutaj 2025-06-27T16:01:02Z DOID:9009326 KRT86-related condition MIM:158000 MNLIX1 rgd_disease_ontology DOID:0061145 monilethrix 1 A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. (DO) PMID:25557232 A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. (DO) mtutaj 2025-05-30T11:53:10Z DOID:9009301 MIM:621049 MONDO:0975953 FRYL RELATED DISORDER PCBS rgd_disease_ontology DOID:0061146 Pan-Chung-Bellen syndrome A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. (DO) PMID:38479391 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. (DO) mtutaj