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:D-2-hydroxyglutaric aciduria 1
go back to main search page
Accession:DOID:0111351 term browser browse the term
Definition:A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)
Synonyms:exact_synonym: D2HGA1
 primary_id: OMIM:600721
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name 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 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
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:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          Metabolic Brain Diseases, Inborn 505
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria 3
                D-2-hydroxyglutaric aciduria 1 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria 3
                    D-2-hydroxyglutaric aciduria 1 2
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.