_:vb50940248 . _:vb50940248 . _:vb50940248 . _:vb50940248 "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)."^^ . _:vb50940248 . _:vb50940248 "url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type"^^ . _:vb50940248 . _:vb50940248 . _:vb50940248 "url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134"^^ . _:vb50940248 . _:vb50940248 "url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346"^^ . _:vb50940248 "url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type"^^ .