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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566504
OMIM:609622
UMLS:C1865018
MONDO:0012314
High level summary of knowledge for a disease, including descriptions and datasource references.