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ONTOLOGY REPORT - ANNOTATIONS


Term:Dystonia Musculorum Deformans
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Accession:DOID:9008057 term browser browse the term
Definition:A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
Synonyms:exact_synonym: Dystonias, Torsion;   Idiopathic Torsion Dystonia;   Idiopathic Torsion Dystonias;   Oppenheim Ziehen Disease;   Progressive Torsion Spasm;   childhood torsion disease;   dystonia deformans progressiva;   torsion disease of childhood;   torsion dystonia
 primary_id: MESH:D004422
 alt_id: RDO:0002354
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Dystonia Musculorum Deformans 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:634735
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
torsion dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:8554872
RGD:7240710
torsion dystonia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:7240710
RGD:8554872
torsion dystonia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          Nervous System Heredodegenerative Disorders 1718
            Dystonia Musculorum Deformans 4
              myoclonic dystonia 15 0
              torsion dystonia 1 1
              torsion dystonia 13 0
              torsion dystonia 2 1
              torsion dystonia 4 1
              torsion dystonia 6 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
                      myoclonic dystonia 15 0
                      torsion dystonia 1 1
                      torsion dystonia 13 0
                      torsion dystonia 2 1
                      torsion dystonia 4 1
                      torsion dystonia 6 1
paths to the root

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