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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 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 OMIM NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      electroclinical syndrome 925
        variable age at onset electroclinical syndrome 69
          progressive myoclonus epilepsy 64
            progressive myoclonus epilepsy 6 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            movement disease 1694
              Dyskinesias 1347
                Myoclonus 127
                  Myoclonic Epilepsies 122
                    progressive myoclonus epilepsy 64
                      progressive myoclonus epilepsy 6 1
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