Disease association ontology term - MONDO:0009295 - glycogen storage disease VII
Term summary
- ID
- MONDO:0009295
- Name
- glycogen storage disease VII
- Ontology or CV name
- Disease association
- Definition
- Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
