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ONTOLOGY REPORT - ANNOTATIONS


Term:torsion dystonia 2
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Accession:DOID:0090038 term browser browse the term
Definition:A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: DYT2;   Dystonia Musculorum Deformans 2;   Dystonia Musculorum Deformans Type 2;   torsion dystonia 2, autosomal recessive;   torsion dystonia 2, autosomal recessive type
 primary_id: MESH:C538006
 alt_id: OMIM:224500;   RDO:0003935
 xref: ORDO:99657
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torsion dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpca hippocalcin JBrowse link 4 129,111,570 129,125,919 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12767
    Developmental Diseases 8803
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7596
        genetic disease 7110
          Nervous System Heredodegenerative Disorders 1749
            Dystonia Musculorum Deformans 4
              torsion dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 12767
    disease of anatomical entity 12382
      nervous system disease 9893
        central nervous system disease 8257
          brain disease 7633
            movement disease 1029
              Dyskinesias 743
                dystonia 126
                  generalized dystonia 7
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.