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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.


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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 chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutations:exons:c.169G>A,c.542G>T(human)
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15385440 PMID:15548604 PMID:21937992 PMID:24894778 PMID:25763823 PMID:26208971 RGD:13506814 RGD:13506815 RGD:13506818 NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:
CTD
RGD
PMID:23561848 RGD:13506826 NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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 chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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 chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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 chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
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 chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
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 chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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 chrNW_004955409:12,473,891...12,485,066
Ensembl chrNW_004955409:12,474,063...12,484,984
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO OMIM NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
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 chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11835
    Nutritional and Metabolic Diseases 3432
      disease of metabolism 3432
        inherited metabolic disorder 1897
          Metabolic Brain Diseases, Inborn 454
            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 11835
    disease of anatomical entity 11390
      nervous system disease 9331
        central nervous system disease 7910
          brain disease 7316
            Metabolic Brain Diseases 519
              Metabolic Brain Diseases, Inborn 454
                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