FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

paroxysmal nonkinesigenic dyskinesia 1

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0090049

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

paroxysmal nonkinesigenic dyskinesia 1

prefixIRI

DOID:0090049

prefLabel

paroxysmal nonkinesigenic dyskinesia 1

subClassOf

http://purl.obolibrary.org/obo/DOID_543

http://purl.obolibrary.org/obo/DOID_0050736

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