OBO ID: DOID:0111459
Term Name: classic galactosemia Search Ontology:
Synonyms:
  • galactose-1-phosphate uridyltransferase deficiency
  • galactosemia type 1
  • GALT deficiency
Definition: A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3. https://www.ncbi.nlm.nih.gov/pubmed/11261429
References:
Ontology: Human Disease   (DOID:0111459)
OTHER classic galactosemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GALT Galactosemia 230400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None