Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: Brugada syndrome type 1 Brugada syndrome 1 BRGDA1 Brugada syndrome caused by mutation in SCN5A SCN5A Brugada syndrome
Term information
- OMIM:601144 (MONDO:equivalentTo)
- UMLS:C4551804 (MONDO:equivalentTo)
- DOID:0110218 (MONDO:equivalentTo)
rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0110218
http://linkedlifedata.com/resource/umls/id/C4551804
https://omim.org/entry/601144
sudden unexplained nocturnal death syndrome
right bundle branch block, St segment elevation, and sudden death syndrome
Cardiac conduction defect, nonspecific