galactose epimerase deficiency

Summary

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: epimerase deficiency galactosemia, galactosemia III, galactosemia type 3, GALE-D, GALE deficiency, UDP-galactose-4-epimerase deficiency, uridine diphosphate galactose-4-epimerase deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gale

MIM:

MIM:230350 - GALACTOSEMIA III; GALAC3

MIM:230350 - GALACTOSEMIA III; GALAC3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), galactosemia (is_a)