{"orpha":99961,"name":"Benign recurrent intrahepatic cholestasis type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BRIC type 2","BRIC2"],"definition":null,"note":"This disease is described under Benign recurrent intrahepatic cholestasis","url":"https://raremap.alftech.space/d/ORPHA-99961/","orphanet_url":"https://www.orpha.net/en/disease/detail/99961","names":{"fr":{"name":"Cholestase intrahépatique récurrente bénigne type 2","synonyms":["BRIC type 2","BRIC2"]},"de":{"name":"Cholestase, benigne intrahepatische, rekurrente, Typ 2","synonyms":["BRIC Typ 2","BRIC2"]},"es":{"name":"Colestasis intrahepática recurrente benigna tipo 2","synonyms":["BRIC tipo 2","BRIC2"]},"it":{"name":"Colestasi intraepatica ricorrente benigna, tipo 2","synonyms":["BRIC, tipo 2","BRIC2"]},"nl":{"name":"Goedaardige recidiverende intrahepatische cholestase type 2","synonyms":["BRIC type 2","BRIC2"]},"pt":{"name":"Colestase intrahepática benigna, tipo 2"},"pl":{"name":"Łagodna nawracająca cholestaza wewnątrzwątrobowa typu 2","synonyms":["BRIC typu 2","BRIC2"]},"cs":{"name":"Benigní rekurentní intrahepatální cholestáza, typ 2","synonyms":["BRIC typ 2","BRIC2"]},"uk":{"name":"Доброякісний рецидивуючий внутрішньопечінковий холестаз, тип 2","synonyms":["BRIC тип 2","BRIC2"]},"zh":{"name":"良性复发性肝内胆汁淤积2型","synonyms":["BRIC2型"]},"tr":{"name":"Selim nükseden intrahepatik kolestaz tip 2","synonyms":["BRIC2","BRIC tip 2"]}},"xrefs":[{"source":"OMIM","code":"605479","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1406591937"},{"source":"MONDO","code":"0011559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2608083","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":65682,"name":"Benign recurrent intrahepatic cholestasis","classifications":[150,156,183]}],"children":[],"genes":[{"symbol":"ABCB11","name":"ATP binding cassette subfamily B member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"42","ensembl":"ENSG00000073734","omim":"603201","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}