Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chr 1:93,823,195...93,853,857
Ensembl chr 1:93,824,909...93,852,348
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO
IMP
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
DNA:mutations:exons:c.169G>A,c.542G>T(human)
CTD PMID:15385440, PMID:15548604, PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr12:69,690,436...69,724,874
Ensembl chr12:69,690,433...69,724,873
JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 ISO DNA:mutations:exons:
CTD Direct Evidence: marker/mechanism
CTD PMID:23561848 RGD:13506826 NCBI chr16:17,925,211...17,928,219
Ensembl chr16:17,925,223...17,928,219
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 (mitochondrial carrier, citrate transporter), member 1 ISO ClinVar Annotator: match by term: Combined d-2- and l-2-hydroxyglutaric aciduria OMIM
ClinVar
PMID:23393310, PMID:23561848, PMID:25741868, PMID:30311386 NCBI chr16:17,925,211...17,928,219
Ensembl chr16:17,925,223...17,928,219
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 chr 1:93,823,195...93,853,857
Ensembl chr 1:93,824,909...93,852,348
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial treatment IMP DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
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 ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar
OMIM
PMID:7609436, PMID:15609246, PMID:16037974, PMID:16081310, PMID:16442322, PMID:18414213, PMID:20020533, PMID:21384162, PMID:25741868, PMID:26178471, PMID:28492532, PMID:30908763 NCBI chr 1:93,823,195...93,853,857
Ensembl chr 1:93,824,909...93,852,348
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:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
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 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar
OMIM
PMID:18414213, PMID:20171147, PMID:20847235, PMID:20946881, PMID:21889589, PMID:22160010, PMID:22397365, PMID:23558173, PMID:23815907, PMID:23949315, PMID:24049096, PMID:24606448, PMID:25157968, PMID:25326635, PMID:25398939, PMID:25741868, PMID:26619011, PMID:28492532 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
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 chr12:69,724,913...69,744,665
Ensembl chr12:69,724,950...69,744,660
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO
IEA
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria
OMIM:236792
DNA:mutation:cds:c.241A4G(p.K81E)(human)
ClinVar
MouseDO
OMIM
PMID:15385440, PMID:16134148, PMID:18362286, PMID:18414213, PMID:19911013, PMID:20052767, PMID:21937992, PMID:22030381, PMID:25741868, PMID:26467025, PMID:26829733, PMID:28492532, PMID:24573090 RGD:13506824 NCBI chr12:69,690,436...69,724,874
Ensembl chr12:69,690,433...69,724,873
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 chr12:69,583,761...69,681,852
Ensembl chr12:69,583,762...69,681,852
JBrowse link
G Vcpkmt valosin containing protein lysine (K) methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr12:69,576,735...69,583,017
Ensembl chr12:69,577,628...69,583,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Nutritional and Metabolic Diseases 3929
      disease of metabolism 3929
        inherited metabolic disorder 2137
          Metabolic Brain Diseases, Inborn 519
            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 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        central nervous system disease 8832
          brain disease 8169
            Metabolic Brain Diseases 589
              Metabolic Brain Diseases, Inborn 519
                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

NHLBI Logo

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