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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 disease type 7
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Accession:DOID:0080069 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. (DO)
Synonyms:primary_id: RDO:9002811
 alt_id: RDO:9002091
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 17126
    disease of anatomical entity 16474
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease type 7 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          neurodegenerative disease 3491
            Nervous System Heredodegenerative Disorders 2104
              motor peripheral neuropathy 493
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease type 7 0
paths to the root