{"orpha":485631,"name":"Congenital bile acid synthesis defect","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["BASD"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-485631/","orphanet_url":"https://www.orpha.net/en/disease/detail/485631","names":{"fr":{"name":"Déficit congénital de synthèse des acides biliaires","synonyms":["DSAB"]},"de":{"name":"Gallensäuresynthesedefekt, kongenitaler","synonyms":["BASD"]},"es":{"name":"Defecto congénito de la síntesis de ácidos biliares","synonyms":["BASD"]},"it":{"name":"Difetto congenito della sintesi degli acidi biliari"},"nl":{"name":"Congenitaal defect van galzuursynthese","synonyms":["BASD"]},"pt":{"name":"Defeito congénito da síntese de ácidos biliares","synonyms":["BASD"]},"pl":{"name":"Wrodzona wada syntezy kwasów żółciowych","synonyms":["BASD"]},"cs":{"name":"Vrozený defekt syntézy žlučových kyselin","synonyms":["BASD"]},"uk":{"name":"Вроджений дефект синтезу жовчних кислот","synonyms":["BASD"]},"zh":{"name":"先天性胆汁酸合成缺陷","synonyms":["胆汁酸合成缺陷"]},"tr":{"name":"Doğumsal safra asidi sentez bozukluğu","synonyms":["BASD"]}},"xrefs":[{"source":"MONDO","code":"0018841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18841","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680095","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","classifications":[150,156,183,233]}],"children":[{"orpha":79301,"name":"Congenital bile acid synthesis defect type 1","type":"Disease"},{"orpha":79303,"name":"Congenital bile acid synthesis defect type 2","type":"Disease"},{"orpha":79302,"name":"Congenital bile acid synthesis defect type 3","type":"Disease"},{"orpha":79095,"name":"Congenital bile acid synthesis defect type 4","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}