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dystonia 24 - Ontology Report - Rat Genome Database

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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 24
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Accession:DOID:0090052 term browser browse the term
Definition:A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: DYT24
 primary_id: MIM:615034
 xref: EFO:0009040;   ORDO:420485

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dystonia 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano3 anoctamin 3 ISO ClinVar Annotator: match by term: Dystonia 24 OMIM
ClinVar		 PMID:11009204 PMID:23200863 PMID:25741868 PMID:27392807 PMID:27666935 More... NCBI chr 3:117,690,242...118,004,695
Ensembl chr 3:97,238,354...97,550,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          Dyskinesias 2230
            dystonia 503
              focal dystonia 11
                dystonia 24 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            movement disease 2631
              Dyskinesias 2230
                dystonia 503
                  focal dystonia 11
                    dystonia 24 1
paths to the root