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Term:episodic kinesigenic dyskinesia 1
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Accession:DOID:0090053 term browser browse the term
Definition:A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in heterozygous mutation in the PRRT2 gene on chromosome 16p11. (DO)
Synonyms:exact_synonym: DYT10;   Dystonia 10;   EKD1;   Familial Paroxysmal Dystonia;   Familial Paroxysmal Kinesigenic Dyskinesia;   PKC;   PKD;   Paroxysmal Kinesigenic Dyskinesia;   Paroxysmal kinesigenic choreoathetosis
 primary_id: MESH:C537180;   RDO:0002968
 alt_id: OMIM:128200
 xref: GARD:8721;   ORDO:98809
For additional species annotation, visit the Alliance of Genome Resources.

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episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          episodic kinesigenic dyskinesia 1 6
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
              Dyskinesias 702
                dystonia 74
                  episodic kinesigenic dyskinesia 1 6
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