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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:oxoglutarate dehydrogenase deficiency
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Accession:DOID:0081326 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. (DO)
Synonyms:exact_synonym: 2-alpha-ketoglutarate dehydrogenase deficiency;   2-ketoglutarate dehydrogenase deficiency;   ALPHA-KGD DEFICIENCY;   OGDHD;   Oxoglutaric Aciduria;   alpha-ketoglutarate dehydrogenase deficiency
 primary_id: MESH:C536582
 alt_id: DOID:9006776;   OMIM:203740
 xref: GARD:617;   ORDO:31


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oxoglutarate dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency ClinVar NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32383294 More... NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            oxoglutarate dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                oxoglutarate dehydrogenase deficiency 2
paths to the root