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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:oromandibular dystonia
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Accession:DOID:0050843 term browser browse the term
Definition:A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)
Synonyms:primary_id: RDO:9003200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
oromandibular dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Oromandibular dystonia ClinVar PMID:30311386 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Oromandibular dystonia ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
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
                oromandibular dystonia 2
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
                    oromandibular dystonia 2
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.