Disease association ontology term - MONDO:0010392 - glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Term summary
- ID
- MONDO:0010392
- Name
- glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Ontology or CV name
- Disease association
- Definition
- Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
