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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 9
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Accession:DOID:0111450 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: EMP9;   EPM9;   PME type 9;   progressive myoclonic epilepsy 9;   progressive myoclonic epilepsy due to LMNB2 deficiency;   progressive myoclonic epilepsy type 9;   progressive myoclonus epilepsy type 9
 primary_id: OMIM:616540
 xref: ORDO:457265
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 OMIM
ClinVar		 PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      electroclinical syndrome 976
        variable age at onset electroclinical syndrome 108
          progressive myoclonus epilepsy 103
            progressive myoclonus epilepsy 9 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Myoclonus 167
                  Myoclonic Epilepsies 162
                    progressive myoclonus epilepsy 103
                      progressive myoclonus epilepsy 9 1
paths to the root