Disease association ontology term - MONDO:0800484 - PRKAG2-related cardiomyopathy
Term summary
- ID
- MONDO:0800484
- Name
- PRKAG2-related cardiomyopathy
- Ontology or CV name
- Disease association
- Definition
- A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.
