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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 SAMD12 on chromosome 8q24.11-q24.12. (DO)
Synonyms:exact_synonym: BAFME1;   Benign Adult Familial Myoclonic Epilepsy 1;   CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1;   Cortical Myoclonic Tremor With Epilepsy, Familial;   Cortical Tremor, Familial;   FAME1;   FCMTE1;   benign adult familial myoclonic epilepsy, type 1;   familial cortical myoclonic tremor and epilepsy 1
 primary_id: MESH:C563399
 alt_id: OMIM:601068
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM
ClinVar
PMID:29507423 PMID:29939203 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      electroclinical syndrome 390
        absence epilepsy 109
          adolescence-adult electroclinical syndrome 41
            familial adult myoclonic epilepsy 7
              familial adult myoclonic epilepsy 1 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Dyskinesias 795
                Myoclonus 85
                  Myoclonic Epilepsies 80
                    familial adult myoclonic epilepsy 7
                      familial adult myoclonic epilepsy 1 1
paths to the root