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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


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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 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 5 1
paths to the root