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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.
Mondo Term and Equivalent IDs
MONDO:0700089:  paroxysmal nonkinesigenic dyskinesia 1