Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Benign Essential Blepharospasm
go back to main search page
Accession:DOID:9002584 term browser browse the term
Synonyms:exact_synonym: Essential Blepharospasm;   Eyelid Twitching;   Primary Blepharospasm;   Spasm of Eyelids
 primary_id: MESH:C535428;   RDO:0000534
 alt_id: OMIM:606798
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 5:38,319,509...38,322,523
Ensembl chr 5:38,319,367...38,322,518
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    sensory system disease 5054
      skin disease 2637
        eyelid disease 114
          blepharospasm 3
            Benign Essential Blepharospasm 1
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        central nervous system disease 8832
          brain disease 8169
            movement disease 1137
              Dyskinesias 848
                dystonia 163
                  focal dystonia 19
                    blepharospasm 3
                      Benign Essential Blepharospasm 1
paths to the root

NHLBI Logo

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