Disease association ontology term - MONDO:0014221 - triosephosphate isomerase deficiency
Term summary
- ID
- MONDO:0014221
- Name
- triosephosphate isomerase deficiency
- Ontology or CV name
- Disease association
- Definition
- Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
