"disease_ontology"^^ . "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23."^^ . _:vb50941241 . _:vb50941241 . . _:vb50941241 . _:vb50941241 . "hyperekplexia 4"@en . . "DOID:0080581"^^ . . _:vb50941241 . .