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progressive myoclonus epilepsy 10 - Ontology Report - Rat Genome Database

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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 the PRDM8 gene on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: EPM10;   early-onset Lafora body disease;   progressive myoclonic epilepsy 10
 xref: GARD:17482;   MIM:616640;   MONDO:0014717;   ORDO:324290

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progressive myoclonus epilepsy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar		 PMID:22961547 PMID:25741868 PMID:28492532 PMID:35034233 NCBI chr14:11,708,477...11,728,111
Ensembl chr14:11,404,407...11,410,993 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      electroclinical syndrome 1518
        variable age at onset electroclinical syndrome 214
          progressive myoclonus epilepsy 208
            progressive myoclonus epilepsy 10 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            movement disease 2631
              Dyskinesias 2230
                Myoclonus 410
                  Myoclonic Epilepsies 404
                    progressive myoclonus epilepsy 208
                      progressive myoclonus epilepsy 10 2
paths to the root