galactokinase deficiency Disease Ontology Browser

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Disease Ontology Browser

galactokinase deficiency (DOID:14695)
Alliance: disease page
Synonyms: Galactosemia II
Alt IDs: OMIM:230200, ICD10CM:E74.29, MESH:D005693, NCI:C114767, UMLS_CUI:C0268155
Definition: A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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