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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 5
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Accession:DOID:0111691 term browser browse the term
Definition:A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1. (DO)
Synonyms:exact_synonym: FAME5;   FCMTE5;   familial cortical myoclonic tremor and epilepsy 5;   familial cortical myoclonic tremor with epilepsy 5
 primary_id: OMIM:615400
For additional species annotation, visit the Alliance of Genome Resources.


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familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO ClinVar Annotator: match by OMIM:615400
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
OMIM
ClinVar
PMID:23518707, PMID:25741868, PMID:28492532 NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      electroclinical syndrome 393
        absence epilepsy 113
          adolescence-adult electroclinical syndrome 44
            familial adult myoclonic epilepsy 7
              familial adult myoclonic epilepsy 5 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    familial adult myoclonic epilepsy 7
                      familial adult myoclonic epilepsy 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.