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short QT syndrome type 3

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.
Uniprot Description A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.
Mondo Term and Equivalent IDs
MONDO:0012314:  short QT syndrome type 3
MESH:C566504: 
UMLS:C1865018: