Diseases associated with PTH1R include chondrodysplasia, blomstrand type (OMIM: 215,045), metaphyseal chondrodysplasia, Jansen type (OMIM: 156,400), Eiken syndrome (OMIM: 600,002) and primary failure of tooth eruption (OMIM: 125,350). The gene discussed is PTH1R; the disease is metaphyseal chondrodysplasia.