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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 RAPGEF2 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
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
ClinVar
OMIM
PMID:25741868 PMID:29507423 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 17251
    syndrome 8148
      electroclinical syndrome 702
        absence epilepsy 111
          adolescence-adult electroclinical syndrome 43
            familial adult myoclonic epilepsy 8
              familial adult myoclonic epilepsy 7 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            movement disease 1401
              Dyskinesias 1068
                Myoclonus 124
                  Myoclonic Epilepsies 119
                    familial adult myoclonic epilepsy 8
                      familial adult myoclonic epilepsy 7 1
paths to the root