{"orpha":88940,"name":"Pseudohypoaldosteronism type 2C","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PHA2C"],"definition":null,"note":"This disease is described under Pseudohypoaldosteronism type 2","url":"https://raremap.alftech.space/d/ORPHA-88940/","orphanet_url":"https://www.orpha.net/en/disease/detail/88940","names":{"fr":{"name":"Pseudohypoaldostéronisme type 2C","synonyms":["PHA2C"]},"de":{"name":"Pseudohypoaldosteronismus Typ 2C","synonyms":["PHA2C"]},"es":{"name":"Pseudohipoaldosteronismo tipo 2C","synonyms":["PHA2C"]},"it":{"name":"Pseudoipoaldosteronismo, tipo 2C","synonyms":["PHA2C"]},"nl":{"name":"Pseudohypoaldosteronisme type 2C","synonyms":["PHA2C"]},"pt":{"name":"Pseudo-hipoaldosteronismo tipo 2C"},"pl":{"name":"Pseudohipoaldosteronizm typu 2C","synonyms":["PHA2C"]},"cs":{"name":"Pseudohypoaldosteronismus, typ 2C","synonyms":["PHA2C"]},"uk":{"name":"Псевдогіпоальдостеронізм, тип 2С","synonyms":["PHA2C"]},"zh":{"name":"假性醛固酮减少症2C型","synonyms":["PHA2C"]},"tr":{"name":"Psödohipoaldosteronizm tip 2C","synonyms":["PHA2C"]}},"xrefs":[{"source":"OMIM","code":"614492","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I15.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BA04.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1052840113"},{"source":"MONDO","code":"0013778","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":757,"name":"Pseudohypoaldosteronism type 2","classifications":[156,188,233]}],"children":[],"genes":[{"symbol":"WNK1","name":"WNK lysine deficient protein kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"14540","ensembl":"ENSG00000060237","omim":"605232","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}