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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 10
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Accession:DOID:0111445 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: EPM10;   early-onset Lafora body disease;   progressive myoclonic epilepsy 10
 primary_id: OMIM:616640
 xref: ORDO:324290
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547 PMID:28492532 NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 53
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 10 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Myoclonus 89
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 10 1
paths to the root