{"orpha":308393,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B","MOCOD type B"],"definition":null,"note":"This disease is described under Encephalopathy due to sulfite oxidase deficiency","url":"https://raremap.alftech.space/d/ORPHA-308393/","orphanet_url":"https://www.orpha.net/en/disease/detail/308393","names":{"fr":{"name":"Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type B","synonyms":["Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type B","MOCOD type B"]},"de":{"name":"Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ B","synonyms":["MOCOD Typ B","Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ B, kombinierter Mangel"]},"es":{"name":"Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo B","synonyms":["Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo B","MOCOD tipo B"]},"it":{"name":"Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo B","synonyms":["Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo B","MOCOD, tipo B"]},"nl":{"name":"Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type B","synonyms":["Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type B","MOCOD type B"]},"pt":{"name":"Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo B"},"pl":{"name":"Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu B","synonyms":["MOCOD typu B","Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu B"]},"cs":{"name":"Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ B","synonyms":["Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ B","MOCOD, typ B"]},"uk":{"name":"Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип В","synonyms":["Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу В","MOCOD тип B"]},"zh":{"name":"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症B型","synonyms":["B型MOCOD"]},"tr":{"name":"Molibden kofaktör eksikliği tip B'ye bağlı sülfit oksidaz eksikliği","synonyms":["Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip B'nin kombine eksikliği","MOCOD tİP B"]}},"xrefs":[{"source":"OMIM","code":"252160","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":"344434559"},{"source":"MONDO","code":"0009644","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854989","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":"MOCS2","name":"molybdenum cofactor synthesis 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"7193","ensembl":"ENSG00000164172","omim":"603708","loci":["5q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}