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Disease Ontology Browser
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 compound heterozygous mutation in the GALE gene on chromosome 1p36.11.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory