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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:episodic ataxia type 7
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Accession:DOID:0050995 term browser browse the term
Definition:An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: EA7
 primary_id: MESH:C567459
 alt_id: OMIM:611907


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          hereditary ataxia 640
            episodic ataxia 108
              episodic ataxia type 7 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                Ataxia 962
                  hereditary ataxia 640
                    episodic ataxia 108
                      episodic ataxia type 7 0
paths to the root