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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:Benign Essential Blepharospasm
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Accession:DOID:9002584 term browser browse the term
Synonyms:exact_synonym: Essential Blepharospasm;   Eyelid Twitching;   Primary Blepharospasm;   Spasm of Eyelids
 related_synonym: DRD5-RELATED CONDITION
 primary_id: MESH:C535428;   RDO:0000534
 alt_id: MIM:606798



show annotations for term's descendants           Sort by:
Benign Essential Blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD5 dopamine receptor D5 susceptibility ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar
OMIM
PMID:25741868 NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    sensory system disease 6942
      skin disease 4060
        eyelid disease 111
          blepharospasm 4
            Benign Essential Blepharospasm 2
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      nervous system disease 13251
        central nervous system disease 11841
          brain disease 11114
            movement disease 2509
              Dyskinesias 2137
                dystonia 494
                  focal dystonia 12
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
paths to the root