ONTOLOGY REPORT - ANNOTATIONS


Term:gamma-amino butyric acid metabolism disorder
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Accession:DOID:0060176 term browser browse the term
Definition:An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)
Synonyms:primary_id: RDO:9003115
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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
homocarnosinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cndp1 carnosine dipeptidase 1 JBrowse link 18 81,466,717 81,512,841 RGD:11554173
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:7240710
RGD:8554872
RGD:11554173
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 17 42,085,027 42,131,344 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            gamma-amino butyric acid metabolism disorder 4
              GABA aminotransferase deficiency 1
              homocarnosinosis 1
              succinic semialdehyde dehydrogenase deficiency 2
Path 2
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
                homocarnosinosis 1
                succinic semialdehyde dehydrogenase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.