Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: LQT5 long QT syndrome type 5 long QT syndrome 5 long QT syndrome caused by mutation in KCNE1 KCNE1 long QT syndrome
Term information
- GARD:10433 (OMIM:613695)
- DOID:0110647 (MONDO:equivalentTo)
- Orphanet:101016 (OMIM:613695)
- HGNC:6240 (GARD:0010433)
- OMIM:613695 (MONDO:equivalentTo)
- UMLS:C1867904 (OMIM:613695)
- NCIT:C172094 (MONDO:equivalentTo)
- MESH:C566766 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/613695
http://purl.obolibrary.org/obo/DOID_0110647
http://linkedlifedata.com/resource/umls/id/C1867904
http://identifiers.org/mesh/C566766
http://purl.obolibrary.org/obo/NCIT_C172094
https://search.clinicalgenome.org/kb/conditions/MONDO:0013372
https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5