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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:Dyskinesia with Orofacial Involvement
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Accession:DOID:9007924 term browser browse the term
Synonyms:exact_synonym: FDFM;   familial dyskinesia with facial myokymia
 primary_id: MESH:C564676
 xref: MIM:PS606703;   NCI:C202047


show annotations for term's descendants           Sort by:
Dyskinesia with Orofacial Involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 More... NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant OMIM
ClinVar		 PMID:152174 PMID:1003446 PMID:11310626 PMID:11445636 PMID:16199547 More... NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28971144 PMID:30975617 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          Dyskinesias 2234
            Dyskinesia with Orofacial Involvement 1
              Dyskinesia with Orofacial Involvement, Autosomal Dominant 1
              Dyskinesia with Orofacial Involvement, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                Dyskinesia with Orofacial Involvement 1
                  Dyskinesia with Orofacial Involvement, Autosomal Dominant 1
                  Dyskinesia with Orofacial Involvement, Autosomal Recessive 1
paths to the root