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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: OMIM: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:27666935 PMID:28492532 More... NCBI chr 3:97,235,671...97,550,090
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 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          Dyskinesias 2197
            dystonia 435
              focal dystonia 11
                dystonia 24 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  focal dystonia 11
                    dystonia 24 1
paths to the root