Five groups (group 8 TRPV4 group, group 12 spondylometaphyseal dysplasias, group 14 severe spondylodysplastic dysplasias, group 18 bent bones dysplasias, and group 21 chondrodysplasia punctata) described in the Nosology have not been reported yet by Chinese biomedical literature. The gene discussed is TRPV4; the disease is spondylodysplastic dysplasia.