Term Name: | classic galactosemia |
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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. |
Ontology: | Human Disease [DOID:0111459] ( DOID:0111459 ) |