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DO Term : galactosemia 4 [DOID:0060969] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:570422,
  • 618881,
  • OMIM:618881,
  • Galactose mutarotase deficiency,
  • Galactosemia type 4,
  • GALM deficiency
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents