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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:7240710
RGD:11554173
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 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          episodic kinesigenic dyskinesia 1 6
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
                  episodic kinesigenic dyskinesia 1 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.