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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 focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO)
Synonyms:exact_synonym: Psychogenic Torticollis;   Spasmodic Torticollis;   Torticollis;   intermittent torticollis;   wryneck
 primary_id: MESH:D014103
 xref: GARD:10668


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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:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DRD5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 3:69,621,187...69,623,522
Ensembl chr 3:69,621,734...69,623,893 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          Dyskinesias 2123
            dystonia 426
              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 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            movement disease 2494
              Dyskinesias 2123
                dystonia 426
                  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