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Term:dystonia 23
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Accession:DOID:0090051 term browser browse the term
Definition:A focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the CACNA1B gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: DYT23
 primary_id: OMIM:614860
 alt_id: RDO:9000437
 xref: ORDO:420492
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dystonia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          dystonia 23 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            movement disease 999
              Dyskinesias 707
                dystonia 80
                  focal dystonia 10
                    dystonia 23 1
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