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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


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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 transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 More... NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        mitochondrial metabolism disease 808
          multiple acyl-CoA dehydrogenase deficiency 14
            Glutaric Aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5521
            amino acid metabolic disorder 1546
              Glutaric Aciduria 77
                Glutaric Aciduria 2 1
paths to the root