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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 the TBC1D24 gene 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: MIM:608105
 xref: ORDO:163727


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		 OMIM
CTD
ClinVar		 PMID:10072049 PMID:18414213 PMID:20727515 PMID:23526554 PMID:24033266 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      infancy electroclinical syndrome 118
        Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            epilepsy 2931
              electroclinical syndrome 1517
                absence epilepsy 255
                  childhood electroclinical syndrome 111
                    benign epilepsy with centrotemporal spikes 52
                      Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
paths to the root