Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:Familial Myoclonus 1
go back to main search page
Accession:DOID:9009015 term browser browse the term
Synonyms:exact_synonym: FCM;   MYOCL1;   familial cortical myoclonus
 xref: MIM:614937;   MONDO:0100093



show annotations for term's descendants           Sort by:
Familial Myoclonus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Myoclonus, familial, 1 OMIM
ClinVar
PMID:22926851 PMID:25741868 NCBI chr19:50,066,493...50,068,175
Ensembl chr19:33,154,062...33,158,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          Dyskinesias 2232
            Myoclonus 408
              Familial Myoclonus 1 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            movement disease 2632
              Dyskinesias 2232
                Myoclonus 408
                  Familial Myoclonus 1 1
paths to the root