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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:Alpha-Ketoglutarate Dehydrogenase Deficiency
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Accession:DOID:9006776 term browser browse the term
Synonyms:exact_synonym: 2 alpha ketoglutarate dehydrogenase deficiency;   2-Ketoglutarate Dehydrogenase Deficiency;   ALPHA-KGD DEFICIENCY;   Oxoglutaric Aciduria;   Oxoglutaricaciduria
 primary_id: MESH:C536582;   RDO:0002208
 alt_id: OMIM:203740
For additional species annotation, visit the Alliance of Genome Resources.


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Alpha-Ketoglutarate Dehydrogenase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogdh oxoglutarate dehydrogenase ISO ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency OMIM
ClinVar
PMID:28492532 NCBI chr14:86,414,924...86,481,903
Ensembl chr14:86,414,949...86,613,327
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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
          amino acid metabolic disorder 433
            Alpha-Ketoglutarate Dehydrogenase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              Alpha-Ketoglutarate Dehydrogenase Deficiency 1
paths to the root

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