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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.

Parents

Annotation

Disease association

MONDO:0009257 - galactose epimerase deficiency

References:

Genes: