Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    Nutritional and Metabolic Diseases 3585
      disease of metabolism 3585
        mitochondrial metabolism disease 327
          Spinocerebellar Ataxia with Epilepsy 1
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        central nervous system disease 8519
          brain disease 7896
            movement disease 1066
              Dyskinesias 805
                Ataxia 363
                  Spinocerebellar Ataxias 278
                    Spinocerebellar Ataxia with Epilepsy 1
paths to the root

NHLBI Logo

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