Disease association ontology term - MONDO:0009865 - glycogen storage disease due to phosphoglycerate mutase deficiency
Term summary
- ID
- MONDO:0009865
- Name
- glycogen storage disease due to phosphoglycerate mutase deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
