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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:blepharospasm
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Accession:DOID:529 term browser browse the term
Definition:Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.
Synonyms:exact_synonym: Blepharospasms
 primary_id: MESH:D001764;   RDO:0000535
 xref: GARD:5909;   ICD10CM:G24.5;   ICD9CM:333.81;   NCI:C118723
For additional species annotation, visit the Alliance of Genome Resources.


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blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO DNA:repeat
CTD Direct Evidence: marker/mechanism
CTD PMID:11781417, PMID:11781417 RGD:734899 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Blepharospasm ClinVar PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
Benign Essential Blepharospasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO OMIM NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Parkinson disease 15
ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260300
OMIM
ClinVar
CTD
PMID:18513678, PMID:19038853, PMID:20603184, PMID:23352116, PMID:24112787, PMID:25029497, PMID:25174650, PMID:25741868, PMID:27294386, PMID:28492532 NCBI chr 7:23,815,246...23,843,505
Ensembl chr 7:23,815,245...23,843,634
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        eyelid disease 111
          blepharospasm 3
            Benign Essential Blepharospasm 1
            Parkinson's disease 15 1
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
                    blepharospasm 3
                      Benign Essential Blepharospasm 1
                      Parkinson's disease 15 1
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.