galactose epimerase deficiency (DOID:0111458)
Alliance: disease page
Synonyms: epimerase deficiency galactosemia; galactosemia III; galactosemia type 3; GALE deficiency; GALE-D; UDP-galactose-4-epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency
Alt IDs: OMIM:230350, MESH:D005693, ORDO:79238, UMLS_CUI:C0751161
Definition: A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11.