ONTOLOGY REPORT - ANNOTATIONS


Term:2-hydroxyglutaric aciduria
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Accession:DOID:0050573 term browser browse the term
Definition:An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)
Synonyms:exact_synonym: 2-Hga;   2-hydroxyglutaricaciduria;   Combined D-2- and L-2-hydroxyglutaric aciduria;   D2L2AD
 primary_id: MESH:C535306
 alt_id: OMIA:001371;   OMIM:615182;   RDO:0000345
 xref: GARD:10761
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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:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:11554173
RGD:13506818
RGD:13506815
RGD:13506814
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:7240710
RGD:13506826
RGD:8554872
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
RGD:7240710
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:13506812
RGD:7240710
RGD:8554872
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmac2l distal membrane arm assembly complex 2 like JBrowse link 6 92,057,782 92,076,022 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:8554872
RGD:7240710
RGD:13506824
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 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
          Metabolic Brain Diseases, Inborn 385
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria 3
              L-2-hydroxyglutaric aciduria 4
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria 3
                  L-2-hydroxyglutaric aciduria 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.