Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

Preferred Label : Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp;

Symbol : EPRPDC;

CISMeF acronym : EPRPDC; RE-PED-WC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RE-PED-WC;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0015);

Prefixed ID : #608105;

Details

Origin ID

608105;

UMLS CUI

C1842531;

Currated CISMeF NLP mapping
- Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp [MeSH concept]
- Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) [SNOMED CT concept]
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [ORDO Disease]
- epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp [MeSH Supplementary Concept]
DO Cross reference
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [DO Concept]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Epilepsy [HPO term]
- Focal hemifacial clonic seizure [HPO term]
- Focal-onset seizure [HPO term]
- Horizontal nystagmus [HPO term]
- Infantile onset [HPO term]
- Myoclonus [HPO term]
- Paroxysmal dystonia [HPO term]
- Prolonged somatosensory evoked potentials [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp [MeSH concept]
- Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) [SNOMED CT concept]
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome [ORDO Disease]
- epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp [MeSH Supplementary Concept]

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