Long qt syndrome 14

Preferred Label : Long qt syndrome 14;

Symbol : LQT14;

CISMeF acronym : LQT14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calmodulin-1 gene (CALM1, 114180.0003);

Prefixed ID : #616247;

Details

Origin ID

616247;

UMLS CUI

C4015671;

Automatic exact mappings (from CISMeF team)
- long QT syndrome 14 [DO Concept]
Currated CISMeF NLP mapping
- Long QT Syndrome 14 [NCIt concept]
DO Cross reference
- long QT syndrome 14 [DO Concept]
Genes related to phenotype
- Calmodulin 1 [OMIM gene]
HPO term(s)
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Infantile onset [HPO term]
- Neonatal onset [HPO term]
- Prolonged QT interval [HPO term]
- Prolonged QTc interval [HPO term]
- Sinus bradycardia [HPO term]
- Sudden death [HPO term]
- T-wave alternans [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Familial long QT syndrome [ORDO Disease]
- Romano-Ward syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long QT Syndrome 14 [NCIt concept]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients