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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 IAGP
EXP		 DNA:repeat
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11781417 PMID:11781417 RGD:734899 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DRD5-related condition		 CTD
OMIM
ClinVar		 PMID:25741868 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP ClinVar Annotator: match by term: DRD5-related condition ClinVar PMID:25741868 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936 		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 IAGP
EXP		 ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 More... NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Parkinson disease 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    sensory system disease 22970
      skin disease 11937
        eyelid disease 142
          blepharospasm 4
            Benign Essential Blepharospasm 2
            Parkinson's disease 15 2
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        central nervous system disease 39993
          brain disease 37615
            movement disease 4100
              Dyskinesias 2879
                dystonia 584
                  focal dystonia 13
                    blepharospasm 4
                      Benign Essential Blepharospasm 2
                      Parkinson's disease 15 2
paths to the root