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DO Term : GABA aminotransferase deficiency [DOID:0060174] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:613163,
  • 613163,
  • Gamma-amino butyric acid transaminase deficiency,
  • gamma-aminobutyric acid transaminase deficiency
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents