Long qt syndrome 15

Preferred Label : Long qt syndrome 15;

Symbol : LQT15;

CISMeF acronym : LQT15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calmodulin-2 gene (CALM2, 114182.0001);

Prefixed ID : #616249;

Details

Origin ID

616249;

UMLS CUI

C4015695;

Automatic exact mappings (from CISMeF team)
- long QT syndrome 15 [DO Concept]
DO Cross reference
- long QT syndrome 15 [DO Concept]
Genes related to phenotype
- Calmodulin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Cardiac arrest [HPO term]
- Prolonged QT interval [HPO term]
- Prolonged QTc interval [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]
Validated automatic mappings to NTBT
- Familial long QT syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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