Disease association ontology term - MONDO:0009255 - galactokinase deficiency
Term summary
- ID
- MONDO:0009255
- Name
- galactokinase deficiency
- Ontology or CV name
- Disease association
- Definition
- Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
