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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 12
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Accession:DOID:0090056 term browser browse the term
Definition:A dystonia characterized by autosomal dominant inheritance of asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: Dyt12;   RDP;   Rapid-onset dystonia-parkinsonism
 primary_id: MESH:C538001
 alt_id: OMIM:128235;   RDO:0003930
 xref: ORDO:71517
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:7240710
RGD:8554872
RGD:11055714
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:6482737

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
          dystonia 12 2
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
                  dystonia 12 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.