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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 predomiantly 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: OMIM:602124;   RDO:0002703;   RDO:0014889
For additional species annotation, visit the Alliance of Genome Resources.


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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 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Neurologic Manifestations 4137
          Dyskinesias 867
            dystonia 161
              focal dystonia 19
                torsion dystonia 7 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  focal dystonia 19
                    torsion dystonia 7 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.