Summary

Metaphyseal Chondrodysplasia, Murk Jansen Type, also known as metaphyseal chondrodysplasia, jansen type,is related to adenomyoma and cranial nerve palsy,and has symptoms including hypertelorism, micrognathia and proptosis. An important gene associated with Metaphyseal Chondrodysplasia, Murk Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways are Signaling events mediated by the Hedgehog family and Osteoblast Signaling. Affiliated tissues include bone, and related mousephenotypes are craniofacial and digestive/alimentary

All SNPs

Disease Hierarchy

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait