Search Ontology:
Human Disease

classic galactosemia

Term ID
DOID:0111459
Synonyms
  • galactose-1-phosphate uridyltransferase deficiency
  • galactosemia type 1
  • GALT deficiency
Definition
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. https://www.ncbi.nlm.nih.gov/pubmed/11261429
References
Ontology
Human Disease   ( DOID:0111459 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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