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Disease Ontology Browser
oxoglutarate dehydrogenase deficiency (DOID:0081326)
Alliance: disease page
Synonyms: alpha-ketoglutarate dehydrogenase deficiency; Oxoglutaric aciduria
Alt IDs: OMIM:203740, ORDO:31
Definition: An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory