Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (EDMMD)

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness, also known as multiple epiphyseal dysplasia, Beighton type, is related to tracheal disease and spondyloarthropathy. An important gene associated with Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways is C-MYB transcription factor network. Affiliated tissues include bone and eye, and related phenotypes are biconcave vertebral bodies and multiple epiphyseal dysplasia.