RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)
Synonyms:
exact_synonym:
GALAC2; GALK deficiencies; GALK deficiency; GALK1-RELATED CONDITION; deficiency of galactokinase; galactokinase deficiencies; galactokinase deficiency disease; galactokinase deficiency diseases; galactokinase deficiency with cataracts; galactosemia 2; galactosemia II