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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.


show annotations for term's descendants           Sort by:
 
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 chr 3:32,708,546...32,726,973
Ensembl chr 3:32,706,298...32,726,973
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 5:38,319,509...38,322,523
Ensembl chr 5:38,319,367...38,322,518
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    disease of anatomical entity 13871
      nervous system disease 11380
        Neurologic Manifestations 5245
          Dyskinesias 885
            dystonia 187
              focal dystonia 11
                cervical dystonia 4
                  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 14265
    disease of anatomical entity 13871
      nervous system disease 11380
        central nervous system disease 9940
          brain disease 9333
            movement disease 1219
              Dyskinesias 885
                dystonia 187
                  focal dystonia 11
                    cervical dystonia 4
                      Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                      Congenital Torticollis 0
                      Sandifer Syndrome 0
                      Torticollis Keloids Cryptorchidism Renal Dysplasia 0
paths to the root