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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 4
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Accession:DOID:0111693 term browser browse the term
Definition:A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. (DO)
Synonyms:exact_synonym: FAME4;   FCMTE4;   familial cortical myoclonic tremor and epilepsy 4;   familial cortical myoclonic tremor with epilepsy 4
 primary_id: OMIM:615127


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familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      electroclinical syndrome 1337
        absence epilepsy 233
          adolescence-adult electroclinical syndrome 131
            familial adult myoclonic epilepsy 96
              familial adult myoclonic epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            movement disease 2494
              Dyskinesias 2123
                Myoclonus 378
                  Myoclonic Epilepsies 372
                    familial adult myoclonic epilepsy 96
                      familial adult myoclonic epilepsy 4 1
paths to the root