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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 15439
    sensory system disease 6941
      Hearing Disorders 799
        Tinnitus 6
          episodic ataxia type 3 0
Path 2
Term Annotations click to browse term
  disease 15439
    disease of anatomical entity 15108
      nervous system disease 13258
        Neurologic Manifestations 9837
          sensory system disease 6941
            Otorhinolaryngologic Diseases 1725
              auditory system disease 1014
                inner ear disease 692
                  vestibular disease 109
                    Vertigo 56
                      peripheral vertigo 55
                        episodic ataxia type 3 0
paths to the root