{"orpha":308400,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C","MOCOD type C"],"definition":null,"note":"This disease is described under Encephalopathy due to sulfite oxidase deficiency","url":"https://raremap.alftech.space/d/ORPHA-308400/","orphanet_url":"https://www.orpha.net/en/disease/detail/308400","names":{"fr":{"name":"Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type C","synonyms":["Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type C","MOCOD type C"]},"de":{"name":"Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ C","synonyms":["MOCOD Typ C","Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ C, kombinierter Mangel"]},"es":{"name":"Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo C","synonyms":["Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo C","MOCOD tipo C"]},"it":{"name":"Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo C","synonyms":["Deficit combinato di solfito ossidasi, xantina ossidasi e aldeide ossidasi, tipo C","MOCOD, tipo C"]},"nl":{"name":"Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type C","synonyms":["Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type C","MOCOD type C"]},"pt":{"name":"Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo C"},"pl":{"name":"Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu C","synonyms":["MOCOD typu C","Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu C"]},"cs":{"name":"Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ C","synonyms":["Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ C","MOCOD, typ C"]},"uk":{"name":"Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип С","synonyms":["Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу С","MOCOD тип C"]},"zh":{"name":"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症C型","synonyms":["C型MOCOD"]},"tr":{"name":"Molibden kofaktör eksikliği tip C nedeniyle sülfit oksidaz eksikliği","synonyms":["Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip C'nin kombine eksikliği","MOCOD tİP C"]}},"xrefs":[{"source":"OMIM","code":"615501","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1053685634"},{"source":"MONDO","code":"0014212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565374","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":99732,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency","classifications":[147,150,156,181,189]}],"children":[],"genes":[{"symbol":"GPHN","name":"gephyrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"15465","ensembl":"ENSG00000171723","omim":"603930","loci":["14q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}