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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: ICD10CM:G24.8;   ORDO:420492
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Dystonia 23 OMIM
ClinVar
PMID:21370267, PMID:25296916, PMID:25741868, PMID:26157024 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          Dyskinesias 869
            dystonia 161
              focal dystonia 19
                dystonia 23 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Dyskinesias 869
                dystonia 161
                  focal dystonia 19
                    dystonia 23 1
paths to the root

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