Disease association ontology term - MONDO:0013367 - long QT syndrome 2
Term summary
- ID
- MONDO:0013367
- Name
- long QT syndrome 2
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
