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Term:paroxysmal nonkinesigenic dyskinesia 1
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Accession:DOID:0090049 term browser browse the term
Definition:A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in heterozygous mutation in the MR1 gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: DYT8;   Dystonia 8;   FPD1;   Familial Paroxysmal Nonkinesigenic Dyskinesia;   Mount-Reback syndrome;   Nonkinesigenic choreoathetosis;   PDC;   PNKD1;   choreoathetosis familial paroxysmal;   paroxysmal dystonic choreoathetosis;   paroxysmal nonkinesigenic dyskinesia
 primary_id: MESH:C537181
 alt_id: OMIM:118800;   RDO:0002969
For additional species annotation, visit the Alliance of Genome Resources.

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paroxysmal nonkinesigenic dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkd PNKD, MBL domain containing JBrowse link 9 81,566,074 81,634,531 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          paroxysmal nonkinesigenic dyskinesia 1 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dystonic Disorders 80
                dystonia 74
                  paroxysmal nonkinesigenic dyskinesia 1 1
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