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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:Glutaric Aciduria 2
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Accession:DOID:9001253 term browser browse the term
Synonyms:exact_synonym: GLUTARIC ACIDEMIA TYPE 2A;   Glutaric acidemia 2 A
 primary_id: MESH:C536834;   RDO:0002532
For additional species annotation, visit the Alliance of Genome Resources.


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Glutaric Aciduria 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etfa electron transferring flavoprotein, alpha polypeptide ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,454,436...55,512,243
Ensembl chr 9:55,454,508...55,512,243
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14322
    Nutritional and Metabolic Diseases 4455
      disease of metabolism 4455
        mitochondrial metabolism disease 382
          multiple acyl-CoA dehydrogenase deficiency 4
            Glutaric Aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 14322
    Developmental Disease 10548
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9006
        genetic disease 8548
          inherited metabolic disorder 2401
            amino acid metabolic disorder 441
              Glutaric Aciduria 5
                Glutaric Aciduria 2 1
paths to the root