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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 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: Epilepsy, progressive myoclonic, 9 ClinVar
OMIM
PMID:16826530, PMID:22995991, PMID:25741868, PMID:25954030, PMID:26467025, PMID:27535533, PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      electroclinical syndrome 394
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 48
            progressive myoclonus epilepsy 9 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      progressive myoclonus epilepsy 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.