Preferred Label : Long qt syndrome 2;
Symbol : LQT2;
CISMeF acronym : LQT2;
Type : Phenotype, molecular basis known;
Included titles and symbols : Long qt syndrome 1/2, digenic; Long qt syndrome 2/3, digenic; Long qt syndrome 2/5, digenic; Long qt syndrome 2/9, digenic; LQT1/2, DIGENIC; LQT2/3, DIGENIC; LQT2/5, DIGENIC; LQT2/9, DIGENIC;
Description : Congenital long QT syndrome is electrocardiographically characterized by a prolonged
QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac
arrhythmias may result in recurrent syncopes, seizure, or sudden death (Jongbloed
et al., 1999).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the potassium voltage-gated channel, subfamily H, member 2 gene
or human ether-a-go-go related gene (KCNH2, 152427.0001);
Prefixed ID : #613688;
Origin ID : 613688;
UMLS CUI : C3150943;
CISMeF manual mappings
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)