Term Name: | galactose epimerase deficiency |
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Synonyms: | epimerase deficiency galactosemia, galactosemia III, galactosemia type 3, GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, uridine diphosphate galactose-4-epimerase deficiency |
Definition: | A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. |
Ontology: | Human Disease [DOID:0111458] ( DOID:0111458 ) |