DSPP mutations in humans are associated with dentinogenesis imperfecta type II (DGI-II, OMIM 125490) and DGI-III (OMIM 125500), as well as dentin dysplasia type II (DD-II, OMIM 125420) and DD-I (MIM 125400) [269,270,271,272,273]. The gene discussed is DSPP; the disease is dentin dysplasia type II.