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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:Familial Myoclonus 2
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Accession:DOID:9003930 term browser browse the term
Synonyms:exact_synonym: MYOCL2
 xref: MIM:618364;   MONDO:0100092


show annotations for term's descendants           Sort by:
Familial Myoclonus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus, familial, 2 OMIM
ClinVar		 PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 More... NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          Dyskinesias 2232
            Myoclonus 412
              Familial Myoclonus 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            movement disease 2633
              Dyskinesias 2232
                Myoclonus 412
                  Familial Myoclonus 2 1
paths to the root