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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 6
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Accession:DOID:0090039 term browser browse the term
Definition:A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)
Synonyms:exact_synonym: DYT6;   Torsion dystonia adult onset mixed type
 primary_id: MESH:C538003
 alt_id: OMIM:602629;   RDO:0003932
 xref: ORDO:98806
For additional species annotation, visit the Alliance of Genome Resources.


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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

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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 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
                      torsion dystonia 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.