WormBase Tree Display for DO_term: DOID:0110682

DOID:0110682 Name: congenital myasthenic syndrome 16
  Status: Valid
  Definition: A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
  Synonym: Exact: CMS16
      congenital myasthenic syndrome acetazolamide-responsive
  Parent: Is_a: DOID:3635
      DOID:0050737
  DB_info: Database: OMIM disease 614198