About   Help   FAQ
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 compund heterozygous mutation in GALT 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.17
The Jackson Laboratory