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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 3
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Accession:DOID:0050991 term browser browse the term
Definition:An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: EA3;   episodic ataxia with vertigo and tinnitus
 primary_id: MESH:C564697
 alt_id: MIM:606554;   RDO:0013568


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    sensory system disease 7372
      Hearing Disorders 847
        Tinnitus 6
          episodic ataxia type 3 0
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        Neurologic Manifestations 10461
          sensory system disease 7372
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1062
                inner ear disease 734
                  vestibular disease 111
                    Vertigo 59
                      peripheral vertigo 58
                        episodic ataxia type 3 0
paths to the root