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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:A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (DO)
Synonyms:exact_synonym: blepharospasms
 primary_id: MESH:D001764
 xref: GARD:5909;   ICD10CM:G24.5;   ICD9CM:333.81;   NCI:C118723
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
RGD		 PMID:11781417 PMID:11781417 RGD:734899 NCBI chr 5:38,476,742...38,479,868
Ensembl chr 5:38,476,710...38,479,861 		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 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
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: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr10:85,856,313...85,887,737
Ensembl chr10:85,857,836...85,887,737 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Parkinson disease 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    sensory system disease 7185
      skin disease 4179
        eyelid disease 116
          blepharospasm 4
            Benign Essential Blepharospasm 2
            Parkinson's disease 15 2
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15855
      nervous system disease 13791
        central nervous system disease 12306
          brain disease 11546
            movement disease 2613
              Dyskinesias 2219
                dystonia 509
                  focal dystonia 13
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
                      Parkinson's disease 15 2
paths to the root