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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 compund heterozygous mutation in GALE 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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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory