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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 6
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Accession:DOID:0050994 term browser browse the term
Definition:An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)
Synonyms:exact_synonym: EA6
 primary_id: MESH:C567207
 alt_id: OMIM:612656


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episodic ataxia type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 6 OMIM
ClinVar		 PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 More... NCBI chr 5:73,679,841...73,761,591
Ensembl chr 5:78,960,797...79,042,694 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        neurodegenerative disease 4736
          hereditary ataxia 637
            episodic ataxia 111
              episodic ataxia type 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            movement disease 2498
              Dyskinesias 2132
                Ataxia 933
                  Spinocerebellar Ataxias 543
                    cerebellar ataxia 466
                      episodic ataxia type 6 1
paths to the root