Patients with enchondromatosis (Ollier disease and Maffucci syndrome, OMIM 166000) are endowed with inactivating mutations in the Parathyroid hormone 1 receptor (PTH1R), while mice with the PTH1R mutation at codon 150 develop multiple enchondroma-like lesions with upregulated Hh signaling [100,104]. The gene discussed is PTH1R; the disease is Enchondromatosis.