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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 14641
    sensory system disease 6685
      Hearing Disorders 760
        Tinnitus 6
          episodic ataxia type 3 0
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Neurologic Manifestations 9431
          sensory system disease 6685
            Otorhinolaryngologic Diseases 1653
              auditory system disease 968
                inner ear disease 658
                  vestibular disease 109
                    Vertigo 57
                      peripheral vertigo 56
                        episodic ataxia type 3 0
paths to the root