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paroxysmal nonkinesigenic dyskinesia 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.
Uniprot Description A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.
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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.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090049
OMIM:118800
MONDO:0700089
High level summary of knowledge for a disease, including descriptions and datasource references.