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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 5
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Accession:DOID:0080067 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. (DO)
Synonyms:exact_synonym: hereditary motor and sensory neuropathy with pyramidal features
 primary_id: OMIM:600361
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 ClinVar NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 5 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          neurodegenerative disease 3215
            Nervous System Heredodegenerative Disorders 1912
              motor peripheral neuropathy 523
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 5 1
paths to the root