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DOID:0060174 - GABA aminotransferase deficiency
Disease Ontology Definition:A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Synonyms: Gamma-amino butyric acid transaminase deficiency, gamma-aminobutyric acid transaminase deficiency,
Xenbase Genes : abat
MONDO:0013166 - GABA aminotransaminase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee