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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
 alt_id: RDO:9000279
 xref: ORDO:420485
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615034
ClinVar Annotator: match by term: Dystonia 24
OMIM
ClinVar
PMID:11009204, PMID:23200863, PMID:25741868, PMID:27666935, PMID:28492532 NCBI chr 3:101,843,516...102,203,368
Ensembl chr 3:101,840,630...102,151,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          Dyskinesias 870
            dystonia 161
              focal dystonia 19
                dystonia 24 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  focal dystonia 19
                    dystonia 24 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.