Term Name: | galactosemia 4 |
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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. |
Ontology: | Human Disease [DOID:0060969] ( DOID:0060969 ) |