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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:Friedreich ataxia 2
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Accession:DOID:0111219 term browser browse the term
Definition:A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. (DO)
Synonyms:exact_synonym: FRDA2
 primary_id: MESH:C566594
 alt_id: OMIM:601992
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        mitochondrial metabolism disease 345
          Friedreich ataxia 2
            Friedreich ataxia 2 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  hereditary ataxia 281
                    cerebellar ataxia 247
                      autosomal recessive cerebellar ataxia 70
                        Friedreich ataxia 2
                          Friedreich ataxia 2 0
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.