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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:Spinocerebellar Ataxia with Epilepsy
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Accession:DOID:9006476 term browser browse the term
Synonyms:exact_synonym: Myoclonic Epilepsy Myopathy Sensory Ataxia
 primary_id: MESH:C564395;   RDO:0013375
For additional species annotation, visit the Alliance of Genome Resources.



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Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          Spinocerebellar Ataxia with Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  Spinocerebellar Ataxias 350
                    Spinocerebellar Ataxia with Epilepsy 1
paths to the root