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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 1
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Accession:DOID:0111218 term browser browse the term
Definition:A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)
Synonyms:exact_synonym: FA1;   FRDA;   FRDA1
 narrow_synonym: FARR;   Friedreich ataxia with retained reflexes
 primary_id: MESH:C565561
 alt_id: OMIM:229300
For additional species annotation, visit the Alliance of Genome Resources.


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Friedreich ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:26467025 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
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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
        mitochondrial metabolism disease 345
          Friedreich ataxia 2
            Friedreich ataxia 1 1
              Friedreich Ataxia with Retained Reflexes 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  hereditary ataxia 281
                    cerebellar ataxia 247
                      autosomal recessive cerebellar ataxia 70
                        Friedreich ataxia 2
                          Friedreich ataxia 1 1
                            Friedreich Ataxia with Retained Reflexes 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.