Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Disease ID: disease_node_16305
Connections displayed (default: 10).
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| Dbxref | MIM:608105, ORDO:163727 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050703 |
| Data Source | DOID |
| Synonyms | EPRPDC, RE-PED-WC, Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp, Rolandic-type focal motor epilepsy and exercise-induced dystonia |
| Doid Label | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
| Doid 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. |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16305 |
| Doid Id | DOID_0111645 |
| Label | Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Infancy Electroclinical Syndrome(ID:disease_node_16304) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)