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 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 classic galactosemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GALT Galactosemia 230400
ZEBRAFISH MODELS
Fish Conditions Citations
galtzf2028/zf2028 standard conditions Delnoy et al., 2022
PHENOTYPE No data available

CITATIONS (1)
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