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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 primary_id: MESH:C535306
 alt_id: OMIA:001371
 xref: GARD:10761;   NCI:C128187
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,322,624
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.169G>A,c.542G>T(human)
RGD
CTD
PMID:15385440, PMID:15548604, PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506814, RGD:13506815, RGD:13506818 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:179,907,857...180,069,146
JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23561848 RGD:13506826 NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...51,002,887
JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A1 solute carrier family 25 member 1 ISO OMIM NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...51,002,887
JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,322,624
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO OMIM NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,322,624
JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:8004109, PMID:9361298, PMID:10102421, PMID:10207904, PMID:10848620, PMID:11571214, PMID:25741868, PMID:28492532 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,196,999...57,249,886
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO OMIM NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMAC2L distal membrane arm assembly complex 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:180,069,157...180,081,332
Ensembl chr 1:180,069,138...180,081,412
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO OMIM NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:179,907,857...180,069,146
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220
JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 1:179,899,642...179,907,439
Ensembl chr 1:179,899,646...179,906,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      disease of metabolism 3655
        inherited metabolic disorder 1997
          Metabolic Brain Diseases, Inborn 486
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria + 3
              L-2-hydroxyglutaric aciduria 4
              combined D-2- and L-2-hydroxyglutaric aciduria 1
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        central nervous system disease 8423
          brain disease 7795
            Metabolic Brain Diseases 551
              Metabolic Brain Diseases, Inborn 486
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria + 3
                  L-2-hydroxyglutaric aciduria 4
                  combined D-2- and L-2-hydroxyglutaric aciduria 1
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.