galactokinase deficiency

created [InstanceEdit:5610019] Jassal, Bijay, 2014-07-21
databaseName DOID
dbId 5610025
definition A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
displayName galactokinase deficiency
identifier 14695
name
  • galactokinase deficiency
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Galactosemia II
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:14695
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