"disease_ontology"^^ . _:vb50940240 . _:vb50940241 . _:vb50940242 . _:vb50940242 . _:vb50940240 . _:vb50940243 . . _:vb50940243 . _:vb50940244 . _:vb50940245 . _:vb50940246 . _:vb50940241 . "DOID:0080028"^^ . _:vb50940247 . _:vb50940242 . _:vb50940241 . _:vb50940246 . _:vb50940240 . _:vb50940241 . "spondyloepimetaphyseal dysplasia, Strudwick type"^^ . _:vb50940245 . . _:vb50940247 . _:vb50940245 . _:vb50940246 . _:vb50940240 . _:vb50940244 . _:vb50940244 . "OMIM:184250"^^ . . _:vb50940245 . _:vb50940244 . "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."^^ . . _:vb50940247 . _:vb50940246 . . _:vb50940247 . _:vb50940241 . _:vb50940246 . _:vb50940247 . _:vb50940240 . _:vb50940245 . _:vb50940242 . _:vb50940243 . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50940244 . _:vb50940243 . _:vb50940242 . _:vb50940243 .