DO_rare_slim has material basis in has phenotype has symptom disease has location autosomal dominant disease spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia, Strudwick type 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). ORDO:93346 disease_ontology GARD:134 MIM:184250 DOID:0080028 OMIM mapping confirmed by DO. [SN]. autosomal dominant inheritance Pectus carinatum Platyspondyly Talipes equinovarus Coxa vara Hyperlordosis short stature sternum vertebral column