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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 3
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Accession:DOID:0111695 term browser browse the term
Definition:A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2. (DO)
Synonyms:exact_synonym: FAME3;   FCMTE3;   familial cortical myoclonic tremor and epilepsy 3;   familial cortical myoclonic tremor with epilepsy 3
 primary_id: MESH:C567098
 alt_id: OMIM:613608
For additional species annotation, visit the Alliance of Genome Resources.


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familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marchf6 membrane associated ring-CH-type finger 6 ISO OMIM NCBI chr 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      electroclinical syndrome 699
        absence epilepsy 110
          adolescence-adult electroclinical syndrome 42
            familial adult myoclonic epilepsy 8
              familial adult myoclonic epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            movement disease 1353
              Dyskinesias 1020
                Myoclonus 124
                  Myoclonic Epilepsies 119
                    familial adult myoclonic epilepsy 8
                      familial adult myoclonic epilepsy 3 1
paths to the root