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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:primary_id: MESH:C535524
 alt_id: OMIM:263550


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, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      Opsoclonus-Myoclonus Syndrome 3
        Infantile Polymyoclonus 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        central nervous system disease 12117
          brain disease 11377
            movement disease 2565
              Dyskinesias 2183
                Myoclonus 390
                  Opsoclonus-Myoclonus Syndrome 3
                    Infantile Polymyoclonus 1
paths to the root