Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 23
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.