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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 7
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Accession:DOID:0111447 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: EPM7;   MEAK;   PME type 7;   Progressive Myoclonic Epilepsy 7;   Progressive myoclonic epilepsy due to KV3.1 deficiency;   myoclonus epilepsy and ataxia due to potassium channel mutation;   progressive myoclonus epilepsy type 7
 primary_id: OMIM:616187
 xref: NCI:C142804;   ORDO:435438
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 OMIM
ClinVar
PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28492532 PMID:31353855 PMID:31353862 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      electroclinical syndrome 392
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 49
            progressive myoclonus epilepsy 7 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                Myoclonus 87
                  Myoclonic Epilepsies 82
                    progressive myoclonus epilepsy 49
                      progressive myoclonus epilepsy 7 1
paths to the root