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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:progressive myoclonus epilepsy 6
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Accession:DOID:0111449 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32. (DO)
Synonyms:exact_synonym: EPM6;   GOSR2-related progressive myoclonus ataxia;   North Sea progressive myoclonus epilepsy;   PME type 6;   PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6;   progressive myoclonic epilepsy 6;   progressive myoclonus epilepsy type 6
 primary_id: OMIM:614018
 xref: GARD:3872;   ORDO:280620
For additional species annotation, visit the Alliance of Genome Resources.



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progressive myoclonus epilepsy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 OMIM
ClinVar
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      electroclinical syndrome 970
        variable age at onset electroclinical syndrome 109
          progressive myoclonus epilepsy 104
            progressive myoclonus epilepsy 6 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            movement disease 1738
              Dyskinesias 1393
                Myoclonus 167
                  Myoclonic Epilepsies 162
                    progressive myoclonus epilepsy 104
                      progressive myoclonus epilepsy 6 2
paths to the root