{"orpha":727149,"name":"KCNH2-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["KCNH2-related isolated congenital LQTS","LQTS type 2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727149/","orphanet_url":"https://www.orpha.net/en/disease/detail/727149","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à KCNH2","synonyms":["LQTS type 2","LQTS congénital isolé associé à KCNH2"]},"de":{"name":"KCNH2-assoziiertes isoliertes kongenitales Long-QT-Syndrom","synonyms":["Long-QT-Syndrom Typ 2"]},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen KCNH2","synonyms":["SQTL aislado congénito asociado al gen KCNH2","SQTL tipo 2"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a KCNH2","synonyms":["LQTS tipo 2","LQTS congenita isolata correlata a KCNH2"]},"nl":{"name":"KCNH2-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["LQTS type 2","KCNH2-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"KCNH2-related isolated congenital Long QT syndrome"},"pl":{"name":"KCNH2-related isolated congenital long QT syndrome","synonyms":["KCNH2-related isolated congenital LQTS","LQTS type 2"]},"cs":{"name":"KCNH2-related isolated congenital long QT syndrome","synonyms":["KCNH2-related isolated congenital LQTS","LQTS type 2"]}},"xrefs":[{"source":"OMIM","code":"613688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101016,"name":"Isolated congenital long QT syndrome","classifications":[146,156]}],"children":[],"genes":[{"symbol":"KCNH2","name":"potassium voltage-gated channel subfamily H member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6251","ensembl":"ENSG00000055118","omim":"152427","loci":["7q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}