Chondrodysplasia, Blomstrand Type (BOCD)

Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to isolated growth hormone deficiency, type ia and pseudo-torch syndrome 1. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone and eye, and related phenotypes are cataract and depressed nasal bridge