{"orpha":88939,"name":"Pseudohypoaldosteronism type 2B","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PHA2B"],"definition":null,"note":"This disease is described under Pseudohypoaldosteronism type 2","url":"https://raremap.alftech.space/d/ORPHA-88939/","orphanet_url":"https://www.orpha.net/en/disease/detail/88939","names":{"fr":{"name":"Pseudohypoaldostéronisme type 2B","synonyms":["PHA2B"]},"de":{"name":"Pseudohypoaldosteronismus Typ 2B","synonyms":["PHA2B"]},"es":{"name":"Pseudohipoaldosteronismo tipo 2B","synonyms":["PHA2B"]},"it":{"name":"Pseudoipoaldosteronismo, tipo 2B","synonyms":["PHA2B"]},"nl":{"name":"Pseudohypoaldosteronisme type 2B","synonyms":["PHA2B"]},"pt":{"name":"Pseudo-hipoaldosteronismo tipo 2B"},"pl":{"name":"Pseudohipoaldosteronizm typu 2B","synonyms":["PHA2B"]},"cs":{"name":"Pseudohypoaldosteronismus, typ 2B","synonyms":["PHA2B"]},"uk":{"name":"Псевдогіпоальдостеронізм, тип 2B","synonyms":["PHA2B"]},"zh":{"name":"假性醛固酮减少症2B型","synonyms":["PHA2B"]},"tr":{"name":"Psödohipoaldosteronizm tip 2B","synonyms":["PHA2B"]}},"xrefs":[{"source":"OMIM","code":"614491","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":"853594829"},{"source":"MONDO","code":"0013777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840390","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":"WNK4","name":"WNK lysine deficient protein kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22073419[PMID]","hgnc":"14544","ensembl":"ENSG00000126562","omim":"601844","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}