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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:L-2-hydroxyglutaric aciduria
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Accession:DOID:0050574 term browser browse the term
Definition:An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)
Synonyms:exact_synonym: L-2-hydroxyglutaric acidemia;   L-2-hydroxyglutaricacidemia;   L2HGA;   L2HGDH-RELATED CONDITION
 primary_id: OMIM:236792
 alt_id: RDO:9004214
 xref: GARD:10472;   ORDO:79314


show annotations for term's descendants           Sort by:
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmac2l distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741905 More... NCBI chr12:69,771,687...69,791,439
Ensembl chr12:69,771,724...69,791,434 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO
IAGP		 DNA:mutation:cds:c.241A4G(p.K81E)(human)
OMIM:236792
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition		 OMIM
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... RGD:13506824 NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647 		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 chr12:69,630,535...69,728,626
Ensembl chr12:69,630,536...69,728,626 		JBrowse link
G Vcpkmt valosin containing protein lysine (K) methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr12:69,623,504...69,629,883
Ensembl chr12:69,624,402...69,629,884 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        inherited metabolic disorder 5663
          Metabolic Brain Diseases, Inborn 1382
            2-hydroxyglutaric aciduria 95
              L-2-hydroxyglutaric aciduria 4
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1382
                2-hydroxyglutaric aciduria 95
                  L-2-hydroxyglutaric aciduria 4
paths to the root