Disease association ontology term - MONDO:0018116 - galactosemia
Term summary
- ID
- MONDO:0018116
- Name
- galactosemia
- Ontology or CV name
- Disease association
- Definition
- Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
