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General Information
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| Term |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
ID (Ontology) |
DOID:0111645 (Human Disease) |
| 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. |
| Also Known As |
"EPRPDC" ; "RE-PED-WC" ; "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 5 | 2 | 1 | for disease ribbon | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | -- | 1 | -- | model of | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 3 | 1 | -- | DOES NOT model | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 4 | -- | -- |
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Relationships