Disease association ontology term - MONDO:0013046 - glycogen storage disease due to muscle beta-enolase deficiency
Term summary
- ID
- MONDO:0013046
- Name
- glycogen storage disease due to muscle beta-enolase deficiency
- Ontology or CV name
- Disease association
- Definition
- Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
