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long QT syndrome 13

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.
Uniprot Description 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 KCNJ5 gene on chromosome 11q24.3.
Mondo Term and Equivalent IDs
MONDO:0013279:  long QT syndrome 13
UMLS:C3150733: