FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term GABA aminotransferase deficiency ID (Ontology) DOID:0060174 (Human Disease)
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.
Also Known As "Gamma-amino butyric acid transaminase deficiency" ; "gamma-aminobutyric acid transaminase deficiency"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 GABA aminotransferase deficiency       1
 for disease ribbon | GABA aminotransferase deficiency       1
 model of | GABA aminotransferase deficiency       1
Spanning Tree (Parents/Children)
Only view relationship: 
  amino acid metabolic disorder
   |__gamma-amino butyric acid metabolism disorder
       |__GABA aminotransferase deficiency  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a gamma-amino butyric acid metabolism disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Gamma-amino butyric acid transaminase deficiency" EXACT
    "gamma-aminobutyric acid transaminase deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:613163