{"orpha":99960,"name":"Benign recurrent intrahepatic cholestasis type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BRIC type 1","BRIC1"],"definition":null,"note":"This disease is described under Benign recurrent intrahepatic cholestasis","url":"https://raremap.alftech.space/d/ORPHA-99960/","orphanet_url":"https://www.orpha.net/en/disease/detail/99960","names":{"fr":{"name":"Cholestase intrahépatique récurrente bénigne type 1","synonyms":["BRIC type 1","BRIC1"]},"de":{"name":"Cholestase, benigne intrahepatische, rekurrente, Typ 1","synonyms":["BRIC Typ 1","BRIC1"]},"es":{"name":"Colestasis intrahepática recurrente benigna tipo 1","synonyms":["BRIC tipo 1","BRIC1"]},"it":{"name":"Colestasi intraepatica ricorrente benigna, tipo 1","synonyms":["BRIC, tipo 1","BRIC1"]},"nl":{"name":"Goedaardige recidiverende intrahepatische cholestase type 1","synonyms":["BRIC type 1","BRIC1"]},"pt":{"name":"Colestase intrahepática benigna, tipo 1"},"pl":{"name":"Łagodna nawracająca cholestaza wewnątrzwątrobowa typu 1","synonyms":["BRIC typu 1","BRIC1"]},"cs":{"name":"Benigní rekurentní intrahepatální cholestáza, typ 1","synonyms":["BRIC typ 1","BRIC1"]},"uk":{"name":"Доброякісний рецидивуючий внутрішньопечінковий холестаз, тип 1","synonyms":["BRIC тип 1","BRIC1"]},"zh":{"name":"良性复发性肝内胆汁淤积1型","synonyms":["BRIC1型"]},"tr":{"name":"Selim tekrarlayan intrahepatik kolestaz tip 1","synonyms":["BRIC1","BRIC tip 1"]}},"xrefs":[{"source":"OMIM","code":"243300","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":"1110331452"},{"source":"MONDO","code":"0009469","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10028","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":"ATP8B1","name":"ATPase phospholipid transporting 8B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3706","ensembl":"ENSG00000081923","omim":"602397","loci":["18q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}