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ONTOLOGY REPORT - ANNOTATIONS


Term:D-2-hydroxyglutaric aciduria
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Accession:DOID:0050575 term browser browse the term
Definition:An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)
Synonyms:exact_synonym: D-2-alpha hydroxyglutaric aciduria;   D2HGA
 xref: GARD:5661;   OMIM:PS600721
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D-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:13506812
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
RGD:7240710
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        inherited metabolic disorder 1899
          Metabolic Brain Diseases, Inborn 414
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria 3
                D-2-hydroxyglutaric aciduria 1 2
                D-2-hydroxyglutaric aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria 3
                    D-2-hydroxyglutaric aciduria 1 2
                    D-2-hydroxyglutaric aciduria 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.