Disease association ontology term - MONDO:0009950 - pyruvate kinase deficiency of red cells
Term summary
- ID
- MONDO:0009950
- Name
- pyruvate kinase deficiency of red cells
- Ontology or CV name
- Disease association
- Definition
- A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
