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DOID:0111458 - galactose epimerase deficiency
Disease Ontology Definition:A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
Synonyms: GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, epimerase deficiency galactosemia, galactosemia III, galactosemia type 3, uridine diphosphate galactose-4-epimerase deficiency,
Xenbase Genes : gale
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee