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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 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:30311386 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:30311386 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11459908 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:30311386 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20843162 RGD:5147570 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:30311386 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Torticollis ClinVar PMID:23806086, PMID:24088043, PMID:24291220, PMID:25169651, PMID:25557349, PMID:25719194, PMID:28492532, PMID:30311386 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          Dyskinesias 869
            dystonia 161
              focal dystonia 19
                cervical dystonia 9
                  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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Dyskinesias 869
                dystonia 161
                  focal dystonia 19
                    cervical dystonia 9
                      Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                      Congenital Torticollis 0
                      Sandifer Syndrome 0
                      Torticollis Keloids Cryptorchidism Renal Dysplasia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.