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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 1
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Accession:DOID:0111690 term browser browse the term
Definition:A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (DO)
Synonyms:exact_synonym: BAFME1;   FAME1;   FCMTE1;   benign adult familial myoclonic epilepsy 1;   benign adult familial myoclonic epilepsy, type 1;   familial cortical myoclonic tremor and epilepsy 1;   familial cortical myoclonic tremor with epilepsy;   familial cortical myoclonic tremor with epilepsy 1;   familial cortical tremor
 primary_id: MESH:C563399
 alt_id: OMIM:601068



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familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      electroclinical syndrome 1349
        absence epilepsy 247
          adolescence-adult electroclinical syndrome 136
            familial adult myoclonic epilepsy 96
              familial adult myoclonic epilepsy 1 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            movement disease 2573
              Dyskinesias 2188
                Myoclonus 377
                  Myoclonic Epilepsies 370
                    familial adult myoclonic epilepsy 96
                      familial adult myoclonic epilepsy 1 1
paths to the root