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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9002947;   OMIM:229300;   RDO:0014166
For additional species annotation, visit the Alliance of Genome Resources.


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Friedreich ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    Nutritional and Metabolic Diseases 4381
      disease of metabolism 4381
        mitochondrial metabolism disease 310
          Friedreich ataxia 2
            Friedreich ataxia 1 1
              Friedreich Ataxia with Retained Reflexes 0
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            movement disease 1007
              Dyskinesias 713
                Ataxia 306
                  hereditary ataxia 189
                    cerebellar ataxia 172
                      autosomal recessive cerebellar ataxia 63
                        Friedreich ataxia 2
                          Friedreich ataxia 1 1
                            Friedreich Ataxia with Retained Reflexes 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.