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long QT syndrome 14

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.
Uniprot Description A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Disease Ontology Description A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.
Mondo Term and Equivalent IDs
MONDO:0014548:  long QT syndrome 14
UMLS:C4015671: