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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:familial adult myoclonic epilepsy 7
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Accession:DOID:0111694 term browser browse the term
Definition:A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. (DO)
Synonyms:exact_synonym: BAFME7;   BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7;   FAME7;   FCMTE7;   familial cortical myoclonic tremor and epilepsy 7;   familial cortical myoclonic tremor with epilepsy 7
 primary_id: OMIM:618075


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familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:164,207,513...164,322,157
Ensembl chr 2:164,207,513...164,244,247 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        absence epilepsy 247
          adolescence-adult electroclinical syndrome 136
            familial adult myoclonic epilepsy 96
              familial adult myoclonic epilepsy 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Myoclonus 380
                  Myoclonic Epilepsies 373
                    familial adult myoclonic epilepsy 96
                      familial adult myoclonic epilepsy 7 1
paths to the root