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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, Autosomal Recessive
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Accession:DOID:9002949 term browser browse the term
Definition:This disease is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade.
Synonyms:exact_synonym: Autosomal recessive dyskinesia with orofacial involvement;   DSKOR
 primary_id: OMIM:619647


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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 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          Dyskinesias 2190
            Dyskinesia with Orofacial Involvement 1
              Dyskinesia with Orofacial Involvement, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Dyskinesia with Orofacial Involvement 1
                  Dyskinesia with Orofacial Involvement, Autosomal Recessive 1
paths to the root