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Disease Ontology Browser
AGAT deficiency (DOID:0050712)
Alliance: disease page
Synonyms: arginine glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3
Alt IDs: OMIM:612718
Definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.

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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last database update
MGI 6.22
The Jackson Laboratory