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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, PMID:30311386 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      disease of metabolism 3655
        mitochondrial metabolism disease 341
          Spinocerebellar Ataxia with Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        central nervous system disease 8423
          brain disease 7795
            movement disease 1076
              Dyskinesias 813
                Ataxia 364
                  Spinocerebellar Ataxias 277
                    Spinocerebellar Ataxia with Epilepsy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.