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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 IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:28649782 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G DRD5 dopamine receptor D5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        Neurologic Manifestations 6003
          Dyskinesias 966
            dystonia 201
              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 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        central nervous system disease 12743
          brain disease 11986
            movement disease 1408
              Dyskinesias 966
                dystonia 201
                  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