{"orpha":99732,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase","MOCOD"],"definition":null,"note":"This disease is described under Encephalopathy due to sulfite oxidase deficiency","url":"https://raremap.alftech.space/d/ORPHA-99732/","orphanet_url":"https://www.orpha.net/en/disease/detail/99732","names":{"fr":{"name":"Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène","synonyms":["Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase","MOCOD"]},"de":{"name":"Sulfitoxidase-Mangel durch Molybdän-Cofaktor-Mangel","synonyms":["MOCOD"]},"es":{"name":"Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno","synonyms":["MOCOD"]},"it":{"name":"Deficit di solfito ossidasi da deficit del cofattore molibdeno","synonyms":["MOCOD"]},"nl":{"name":"Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie","synonyms":["Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase","MOCOD"]},"pt":{"name":"Deficiência de sulfito oxidase por deficiência do cofator de molibdénio"},"pl":{"name":"Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego","synonyms":["MOCOD","Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej"]},"cs":{"name":"Deficit sulfit oxidázy způsobený deficitem molybdenového kofaktoru","synonyms":["Kombinovaný deficit sulfitoxidázy, xantin dehydrogenázy a aldehydoxidázy","MOCOD"]},"uk":{"name":"Дефіцит сульфітоксидази через дефіцит молібденового кофактору","synonyms":["Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази","MOCOD"]},"zh":{"name":"钼辅因子缺乏所致亚硫酸盐氧化酶缺乏","synonyms":["钼辅因子缺陷"]},"tr":{"name":"Molibden kofaktör eksikliğine bağlı sülfit oksidaz eksikliği","synonyms":["Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidazın kombine eksikliği","MOCOD"]}},"xrefs":[{"source":"OMIM","code":"252150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252160","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615501","qualifier":"BTNT","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":"819219337"},{"source":"MONDO","code":"0020480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268119","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","classifications":[147,150,156,181,189]}],"children":[{"orpha":308386,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A","type":"Etiological subtype"},{"orpha":308393,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B","type":"Etiological subtype"},{"orpha":308400,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}