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DOID:0050712 - AGAT deficiency
Disease Ontology 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.
Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 3, arginine:glycine amidinotransferase deficiency,
Echinobase Genes
:
gatm
| MIM:612718 - cerebral creatine deficiency syndrome 3; ccds3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cerebral creatine deficiency syndrome (is_a)