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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 with Ptosis and Parkinsonism
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Accession:DOID:9000782 term browser browse the term
Synonyms:primary_id: MESH:C538079
 alt_id: OMIM:118301



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        eyelid disease 103
          ptosis 30
            Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            basal ganglia disease 1123
              Parkinsonism 452
                secondary Parkinson disease 17
                  Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
paths to the root