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Disease Ontology Browser
classic galactosemia (DOID:0111459)
Alliance: disease page
Synonyms: galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency
Alt IDs: OMIM:230400, MESH:D005693, NCI:C99104, ORDO:79239, UMLS_CUI:C0268151
Definition: A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory