Disease association ontology term - MONDO:0009113 - hemolytic anemia due to diphosphoglycerate mutase deficiency
Term summary
- ID
- MONDO:0009113
- Name
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
