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Echinobase
Summary Literature (0)
DOID:14695 - galactokinase deficiency

Disease Ontology Definition:A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

Synonyms: Galactosemia II,

Echinobase Genes : galk1


OMIM:
MIM:230200 - galactokinase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): galactosemia (is_a)