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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 23
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Accession:DOID:0090051 term browser browse the term
Definition:A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of 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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        Neurologic Manifestations 3592
          Dyskinesias 711
            dystonia 81
              focal dystonia 10
                dystonia 23 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
                  focal dystonia 10
                    dystonia 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.