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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:torsion dystonia 7
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Accession:DOID:0090040 term browser browse the term
Definition:A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. (DO)
Synonyms:exact_synonym: DYT7;   Primary adult-onset torsion dystonia;   Torsion dystonia, focal adult-onset;   primary cervical dystonia
 narrow_synonym: TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY
 primary_id: MESH:C566572
 alt_id: MIM:602124;   RDO:0002703;   RDO:0014889


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torsion dystonia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          Dyskinesias 2234
            dystonia 506
              focal dystonia 13
                torsion dystonia 7 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                dystonia 506
                  focal dystonia 13
                    torsion dystonia 7 1
paths to the root