Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (OSMEDB)

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as osmed, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and sensorineural hearing loss, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone and heart, and related phenotypes are depressed nasal bridge and abnormal vertebral morphology