Metaphyseal Chondrodysplasia, Jansen Type (MCDJ)

Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to hypercalcemia, infantile, 1 and nephrolithiasis, and has symptoms including waddling gait An important gene associated with Metaphyseal Chondrodysplasia, Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and Vitamin D receptor pathway. Affiliated tissues include bone and kidney, and related phenotypes are osteopenia and hearing impairment