spondyloepimetaphyseal dysplasia, Li-Shao-Li type DOID:0051046 disease_ontology A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. MIM:621099 spondyloepimetaphyseal dysplasia