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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:Opsoclonus-Myoclonus Syndrome
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Accession:DOID:9001087 term browser browse the term
Definition:A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system.
Synonyms:exact_synonym: Dancing Eyes Dancing Feet Syndrome;   Infants Myoclonic Encephalopathies;   Infants Myoclonic Encephalopathy;   Kinsbourne Syndrome;   Myoclonic Encephalopathy of Infants;   Opsoclonus Myoclonus;   Opsoclonus Myoclonus Ataxia;   Paraneoplastic Opsoclonus Myoclonus Ataxia
 primary_id: MESH:D053578;   RDO:0000685
 xref: EFO:1001383
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Opsoclonus-Myoclonus Syndrome 3
        Infantile Polymyoclonus 0
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            movement disease 1757
              Dyskinesias 1411
                Myoclonus 170
                  Opsoclonus-Myoclonus Syndrome 3
                    Infantile Polymyoclonus 0
paths to the root