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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 4
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Accession:DOID:0090041 term browser browse the term
Definition:A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: DYT4;   dystonia musculorum deformans 4;   hereditary whispering dysphonia;   torsion dystonia 4, autosomal dominant;   torsion dystonia 4, autosomal dominant type
 primary_id: MESH:C536698;   MESH:C538004
 alt_id: OMIM:128101;   RDO:0002352;   RDO:0003933
 xref: ORDO:98805
For additional species annotation, visit the Alliance of Genome Resources.


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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

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Path 1
Term Annotations click to browse term
  disease 15620
    Pathological Conditions, Signs and Symptoms 8034
      Signs and Symptoms 4691
        Neurologic Manifestations 3592
          Voice Disorders 3
            torsion dystonia 4 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            movement disease 1001
              Dyskinesias 711
                dystonia 81
                  generalized dystonia 7
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.