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ONTOLOGY REPORT - ANNOTATIONS


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 metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          paroxysmal nonkinesigenic dyskinesia 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            movement disease 999
              Dyskinesias 707
                dystonia 80
                  paroxysmal nonkinesigenic dyskinesia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.