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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 17
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Accession:DOID:0090042 term browser browse the term
Definition:A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. (DO)
Synonyms:exact_synonym: DYT17;   torsion dystonia 17, autosomal recessive
 primary_id: MESH:C567319
 alt_id: OMIM:612406;   RDO:0015426
 xref: ORDO:370103
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      nervous system disease 10189
        Neurologic Manifestations 3566
          Dyskinesias 709
            dystonia 81
              torsion dystonia 17 0
Path 2
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      nervous system disease 10189
        central nervous system disease 8067
          brain disease 7535
            movement disease 998
              Dyskinesias 709
                dystonia 81
                  torsion dystonia 17 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.