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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:cervical dystonia
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Accession:DOID:0050840 term browser browse the term
Definition:A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.
Synonyms:exact_synonym: Intermittent Torticollis;   Psychogenic Torticollis;   Spasmodic Torticollis;   Torticollis;   Wryneck
 primary_id: MESH:D014103;   RDO:0000529
 xref: GARD:10668
For additional species annotation, visit the Alliance of Genome Resources.

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cervical dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:28649782 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,493...117,628,493 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947 		JBrowse link
G DRD5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      nervous system disease 10817
        Neurologic Manifestations 5011
          Dyskinesias 847
            dystonia 178
              focal dystonia 9
                cervical dystonia 3
                  Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                  Congenital Torticollis 0
                  Sandifer Syndrome 0
                  Torticollis Keloids Cryptorchidism Renal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      nervous system disease 10817
        central nervous system disease 9485
          brain disease 8906
            movement disease 1150
              Dyskinesias 847
                dystonia 178
                  focal dystonia 9
                    cervical dystonia 3
                      Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                      Congenital Torticollis 0
                      Sandifer Syndrome 0
                      Torticollis Keloids Cryptorchidism Renal Dysplasia 0
paths to the root