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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.

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blepharospasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd5 dopamine receptor D5 ISO CTD Direct Evidence: marker/mechanism
DNA:repeat		 CTD
RGD		 PMID:11781417 RGD:734899 NCBI chrNW_004936477:16,860,222...16,863,505
Ensembl chrNW_004936477:16,861,773...16,863,215 		JBrowse link
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 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936477:16,860,222...16,863,505
Ensembl chrNW_004936477:16,861,773...16,863,215 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chrNW_004936477:16,700,915...16,836,424
Ensembl chrNW_004936477:16,717,002...16,834,663 		JBrowse link
Parkinson's disease 15 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chrNW_004936492:7,261,442...7,276,779
Ensembl chrNW_004936492:7,261,009...7,276,943 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Parkinson disease 15 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    sensory system disease 6687
      skin disease 3922
        eyelid disease 107
          blepharospasm 4
            Benign Essential Blepharospasm 2
            Parkinson's disease 15 2
Path 2
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12610
        central nervous system disease 11270
          brain disease 10576
            movement disease 2426
              Dyskinesias 2070
                dystonia 483
                  focal dystonia 12
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
                      Parkinson's disease 15 2
paths to the root