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Metadata
ID DOID:0090049
Name paroxysmal nonkinesigenic dyskinesia 1
Definition A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.
https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, https://www.ncbi.nlm.nih.gov/pubmed/28090678
Xrefs

ICD10CM:G24.8

OMIM:118800

ORDO:98810

Subsets

DO_rare_slim

Parent Relationships

is_a dystonia

is_a autosomal dominant disease

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