Search Ontology:
Human Disease

galactosemia 4

Term ID
DOID:0060969
Synonyms
  • Galactose mutarotase deficiency
  • Galactosemia type 4
  • GALM deficiency
Definition
A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. https://pubmed.ncbi.nlm.nih.gov/30451973/
References
Ontology
Human Disease   ( DOID:0060969 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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