Mondo Description Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
Uniprot Description A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.
Disease Ontology Description A dystonia characterized by autosomal dominant inheritance of paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090045
GARD:0010541
MESH:C564288
OMIM:612126
Orphanet:98811
SCTID:724072002
UMLS:C1842534
MONDO:0012805
High level summary of knowledge for a disease, including descriptions and datasource references.