{"orpha":620220,"name":"Bartter syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bartter syndrome type II"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-620220/","orphanet_url":"https://www.orpha.net/en/disease/detail/620220","names":{"fr":{"name":"Syndrome de Bartter type 2","synonyms":["Syndrome de Bartter type II"]},"de":{"name":"Bartter-Syndrom Typ 2","synonyms":["Bartter-Syndrom Typ II"]},"es":{"name":"Síndrome de Bartter tipo 2","synonyms":["Síndrome de Bartter tipo II"]},"it":{"name":"Sindrome di Bartter tipo 2","synonyms":["Sindrome di Bartter tipo II"]},"nl":{"name":"Syndroom van Bartter type 2","synonyms":["Syndroom van Bartter type II"]},"pt":{"name":"Síndrome Bartter tipo 2","synonyms":["Síndrome Bartter tipo II"]},"pl":{"name":"Zespół Barttera typu 2","synonyms":["Bartter syndrome type II"]},"cs":{"name":"Bartterův syndrom typu 2","synonyms":["Bartter syndrome type II"]},"uk":{"name":"Синдром Барттера, тип 2","synonyms":["Синдром Барттера, тип II"]}},"xrefs":[{"source":"OMIM","code":"241200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.43","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1050277439"},{"source":"MONDO","code":"0009424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":112,"name":"Bartter syndrome","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"KCNJ1","name":"potassium inwardly rectifying channel subfamily J member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26963954[PMID]","hgnc":"6255","ensembl":"ENSG00000151704","omim":"600359","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}