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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:Infantile Polymyoclonus
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Accession:DOID:9002800 term browser browse the term
Synonyms:xref: MESH:C535524;   MIM:263550;   MONDO:0009896


show annotations for term's descendants           Sort by:
Infantile Polymyoclonus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Opsoclonus-Myoclonus Syndrome 3
        Infantile Polymyoclonus 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                Myoclonus 416
                  Opsoclonus-Myoclonus Syndrome 3
                    Infantile Polymyoclonus 1
paths to the root