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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DRD5-related condition
CTD
ClinVar
OMIM
PMID:25741868 NCBI chr 5:38,476,742...38,479,868
Ensembl chr 5:38,476,710...38,479,861
JBrowse link
G Slc2a9 solute carrier family 2 (facilitated glucose transporter), member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr 5:38,506,616...38,660,488
Ensembl chr 5:38,506,616...38,660,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    sensory system disease 7186
      skin disease 4180
        eyelid disease 116
          blepharospasm 4
            Benign Essential Blepharospasm 2
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15862
      nervous system disease 13796
        central nervous system disease 12314
          brain disease 11556
            movement disease 2613
              Dyskinesias 2219
                dystonia 509
                  focal dystonia 13
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
paths to the root