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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:Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
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Accession:DOID:0111645 term browser browse the term
Definition:An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: EPRPDC;   RE-PED-WC;   Rolandic epilepsy, with paroxysmal exercise-induced dystonia and writer's cramp;   Rolandic-type focal motor epilepsy and exercise-induced dystonia
 primary_id: MESH:C535499
 alt_id: OMIM:608105
 xref: ORDO:163727
For additional species annotation, visit the Alliance of Genome Resources.



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Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome OMIM
ClinVar
PMID:10072049 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      infancy electroclinical syndrome 53
        Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 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
            epilepsy 2579
              electroclinical syndrome 924
                absence epilepsy 141
                  childhood electroclinical syndrome 101
                    benign epilepsy with centrotemporal spikes 54
                      Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
paths to the root