OBO ID: DOID:0111458
Term Name: galactose epimerase deficiency Search Ontology:
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 compund heterozygous mutation in GALE on chromosome 1p36.11. (2)
References:
Ontology: Human Disease   (DOID:0111458)
OTHER galactose epimerase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GALE Galactose epimerase deficiency 230350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None