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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


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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 IAGP ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:21370267 PMID:25296916 PMID:25741868 PMID:26157024 PMID:28492532 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Dystonia 23 ClinVar PMID:25741868 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        Neurologic Manifestations 15470
          Dyskinesias 2694
            dystonia 510
              focal dystonia 11
                dystonia 23 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        central nervous system disease 23611
          brain disease 22049
            movement disease 3287
              Dyskinesias 2694
                dystonia 510
                  focal dystonia 11
                    dystonia 23 2
paths to the root