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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 1
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Accession:DOID:0060730 term browser browse the term
Definition:A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DYT1;   EOTD;   Early onset torsion dystonia;   Early-Onset Generalized Torsion Dystonia;   Early-Onset Primary Dystonia;   Oppenheim Dystonia;   Oppenheim's dystonia;   dystonia musculorum deformans 1;   dystonia musculorum deformans type 1;   primary torsion dystonia;   torsion dystonia 1, autosomal dominant
 narrow_synonym: DYSTONIA 1, TORSION, LATE-ONSET;   DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES
 primary_id: MESH:C538005
 alt_id: OMIM:128100;   RDO:0003934
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torsion dystonia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Nervous System Heredodegenerative Disorders 1718
            Dystonia Musculorum Deformans 4
              torsion dystonia 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                dystonia 81
                  generalized dystonia 7
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 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.