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familial adult myoclonic epilepsy 1

Go to external page http://purl.obolibrary.org/obo/DOID_0111690

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

familial adult myoclonic epilepsy 1

Synonyms
  • BAFME1
  • FAME1
  • FCMTE1
  • benign adult familial myoclonic epilepsy 1
  • familial cortical myoclonic tremor and epilepsy 1
database cross reference
has obo namespace

disease_ontology

id

DOID:0111690