Term Name:	spondyloepimetaphyseal dysplasia, Strudwick type
Synonyms:
Definition:	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).
Ontology:	Human Disease [DOID:0080028]   ( DOID:0080028 )