ONTOLOGY REPORT - ANNOTATIONS


Term:GABA aminotransferase deficiency
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Accession:DOID:0060174 term browser browse the term
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. (DO)
Synonyms:exact_synonym: 4 alpha aminobutyrate transaminase deficiency;   GABA-transaminase deficiency;   Gamma aminobutyrate transaminase deficiency;   gamma aminobutyric acid transaminase deficiency;   gamma-amino butyric acid transaminase deficiency
 primary_id: MESH:C535407
 alt_id: OMIM:613163;   RDO:0000508
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GABA aminotransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            GABA aminotransferase deficiency 1
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Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              gamma-amino butyric acid metabolism disorder 4
                GABA aminotransferase deficiency 1
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