Search Ontology:
Human Disease
galactose epimerase deficiency
- Term ID
- DOID:0111458
- 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. (2)
- References
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- GARD:5392
- MESH:D005693
- MIM:230350
- ORDO:79238
- SNOMEDCT_US_2023_03_01:8849004
- UMLS_CUI:C0751161
- Ontology
- Human Disease ( DOID:0111458 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models