_:vb50940253 . . "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."^^ . "OMIM:602111"^^ . _:vb50940252 . _:vb50940253 . . _:vb50940251 . _:vb50940251 . "DOID:0080030"^^ . _:vb50940252 . _:vb50940251 . _:vb50940250 . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50940251 . _:vb50940252 . _:vb50940252 . _:vb50940251 . _:vb50940253 . _:vb50940250 . _:vb50940250 . _:vb50940250 . _:vb50940253 . . _:vb50940252 . _:vb50940253 . . "spondyloepimetaphyseal dysplasia, Missouri type"^^ . _:vb50940250 . "disease_ontology"^^ .