galactosemia 4 Disease Ontology Browser

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Disease Ontology Browser

galactosemia 4 (DOID:0060969)
Alliance: disease page
Synonyms: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency
Alt IDs: OMIM:618881, ORDO:570422
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.

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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