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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 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 OMIM
ClinVar
PMID:21549339, PMID:23449775, PMID:24458321, PMID:25326637, PMID:25741868, PMID:28492532, PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 6 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.