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torsion dystonia 7 - 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: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 N Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chrNW_004624760:6,653,710...6,672,357
Ensembl chrNW_004624760:6,654,659...6,672,237 		JBrowse link
G G CIZ1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr12:9,939,984...9,961,913
Ensembl chr12:9,940,696...9,962,235 		JBrowse link
G P CIZ1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893 		JBrowse link
G S Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chrNW_004936487:15,728,982...15,748,737 JBrowse link
G D CIZ1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 9:55,303,189...55,322,429
Ensembl chr 9:55,303,129...55,318,945 		JBrowse link
G B CIZ1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		JBrowse link
G C Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980 		JBrowse link
G R Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 3:36,055,753...36,071,510
Ensembl chr 3:15,658,539...15,673,762 		JBrowse link
G M Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982 		JBrowse link
G H CIZ1 CDKN1A interacting zinc finger protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22447717 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          Dyskinesias 22111
            dystonia 4977
              focal dystonia 106
                torsion dystonia 7 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            movement disease 27194
              Dyskinesias 22111
                dystonia 4977
                  focal dystonia 106
                    torsion dystonia 7 10
paths to the root