FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term galactose epimerase deficiency ID (Ontology) DOID:0111458 (Human Disease)
Definition A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11.
Also Known As "epimerase deficiency galactosemia" ; "galactosemia III" ; "galactosemia type 3" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Genes Human Disease Models
 galactose epimerase deficiency       1      1
 for disease ribbon | galactose epimerase deficiency       1       --
 model of | galactose epimerase deficiency       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
carbohydrate metabolic disorder  |
 |__galactosemia_________________|
                                 galactose epimerase deficiency  2 rec.
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Is a autosomal recessive disease
galactosemia
Part of
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Synonyms
  • "epimerase deficiency galactosemia" EXACT
    "galactosemia III" EXACT
    "galactosemia type 3" EXACT
    "GALE deficiency" EXACT
    "GALE-D" EXACT OMO:0003012
    "UDP-galactose-4-epimerase deficiency" EXACT
    "uridine diphosphate galactose-4-epimerase deficiency" EXACT
Secondary IDs
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GARD:5392
MESH:D005693
MIM:230350
ORDO:79238
SNOMEDCT_US_2023_03_01:8849004
UMLS_CUI:C0751161