Disease association ontology term - MONDO:0009257 - galactose epimerase deficiency
Term summary
- ID
- MONDO:0009257
- Name
- galactose epimerase deficiency
- Ontology or CV name
- Disease association
- Definition
- Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.