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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:Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
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Accession:DOID:9002021 term browser browse the term
Synonyms:primary_id: MESH:C564446;   RDO:0013408
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 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 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
                          Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 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.