Gaba Aminotransferase Deficiency
Disease ID: disease_node_20540
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| Dbxref | MIM:613163 |
|---|---|
| Subclassof | DOID_0060176 |
| Data Source | DOID |
| Synonyms | Gamma-amino butyric acid transaminase deficiency, gamma-aminobutyric acid transaminase deficiency |
| Doid Label | GABA aminotransferase deficiency |
| Doid Description | 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. |
| Disease Node Id | disease_node_20540 |
| Doid Id | DOID_0060174 |
| Label | Gaba Aminotransferase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Gamma-Amino Butyric Acid Metabolism Disorder(ID:disease_node_20539) (Disease)