| Metadata | |
|---|---|
| ID | DOID:14695 |
| Name | galactokinase deficiency |
| Definition | A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. http://en.wikipedia.org/wiki/Galactokinase_deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:124302001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Galactosemia II [EXACT] |
| Parent Relationships |
is_a galactosemia |