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DO Term : Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [DOID:0111645] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Rolandic-type focal motor epilepsy and exercise-induced dystonia,
  • 608105,
  • Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp,
  • ORDO:163727,
  • RE-PED-WC,
  • OMIM:608105,
  • EPRPDC
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Ontology

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Ontology Term --> Direct children

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