{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-163631/","orphanet_url":"https://www.orpha.net/en/disease/detail/163631","names":{"fr":{"name":"Défaut de synthèse des acides biliaires avec cholestase et malabsorption"},"de":{"name":"Gallensäuresynthesedefekt mit Cholestase und Malabsorption"},"es":{"name":"Defecto en la síntesis de ácido biliar"},"it":{"name":"Difetto della sintesi degli acidi biliari"},"nl":{"name":"Defect van galzuursynthese met cholestase en malabsorptie"},"pt":{"name":"Defeito da síntese de ácidos biliares com colestase e má absorção"},"pl":{"name":"Zaburzenie syntezy kwasów tłuszczowych z cholestazą i złym wchłanianiem"},"cs":{"name":"Porucha syntézy žlučových kyselin s cholestázou a malabsorpcí"},"uk":{"name":"Дефект синтезу жовчних кислот з холестазом і мальабсорбцією"},"zh":{"name":"胆汁酸合成缺陷伴胆汁淤积及吸收障碍"},"tr":{"name":"Kolestaz ve malabsorpsiyon ile seyreden safra asidi sentez bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C52.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1295299670"},{"source":"MONDO","code":"15581","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681851","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79168,"name":"Disorder of bile acid synthesis","classifications":[150,156]},{"orpha":284385,"name":"Familial intrahepatic cholestasis","classifications":[156,183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[{"orpha":276066,"name":"Bile acid CoA ligase deficiency and defective amidation","type":"Disease"},{"orpha":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease"},{"orpha":485631,"name":"Congenital bile acid synthesis defect","type":"Clinical group"},{"orpha":238475,"name":"Familial hypercholanemia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}