Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:myoclonic cerebellar dyssynergia
go back to main search page
Accession:DOID:12707 term browser browse the term
Definition:A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
Synonyms:exact_synonym: Cerebelloparenchymal Disorder V;   Dentate Cerebellar Ataxia;   Dentate Cerebellar Ataxias;   Dentate Cerebellar Atrophies;   Dentate Cerebellar Atrophy;   Dentate Nucleus Syndrome, Ramsay Hunt;   Dyssynergia Cerebellaris Myoclonica;   Dyssynergia Cerebellaris Myoclonica Of Hunt;   Dyssynergia Cerebellaris Progressiva;   Myoclonic Cerebellar Dyssynergias;   Ramsay Hunt Dentate Syndrome;   Ramsay Hunt cerebellar syndrome;   cerebellar dyssynergia;   cerebellar dyssynergias;   progressive cerebellar tremor;   spinodentate atrophy
 primary_id: MESH:D002527
 alt_id: OMIM:213400;   RDO:0005155
 xref: GARD:9256;   ICD10CM:G11.1
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          myoclonic cerebellar dyssynergia 0
            Hunt's Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            cerebellar disease 402
              primary cerebellar degeneration 244
                myoclonic cerebellar dyssynergia 0
                  Hunt's Syndrome 0
paths to the root