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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: Myoclonic epilepsy myopathy sensory ataxia ClinVar PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17894835 PMID:18294203 PMID:18321754 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19251978 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20301791 PMID:20438629 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21686371 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22616202 PMID:22711370 PMID:22931735 PMID:22995991 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23430834 PMID:23448099 PMID:23783014 PMID:23804100 PMID:23808377 PMID:24033266 PMID:24122062 PMID:24272679 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25281868 PMID:25286830 PMID:25585994 PMID:25713120 PMID:25741868 PMID:26077851 PMID:26104464 PMID:26467025 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28130605 PMID:28206745 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29272804 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29574624 PMID:29588995 PMID:29712893 PMID:29920680 PMID:30021052 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          Spinocerebellar Ataxia with Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Dyskinesias 795
                Ataxia 341
                  Spinocerebellar Ataxias 221
                    Spinocerebellar Ataxia with Epilepsy 1
paths to the root