Spondyloepimetaphyseal Dysplasia, Missouri Type (SEMDM)

Spondyloepimetaphyseal Dysplasia, Missouri Type, also known as metaphyseal anadysplasia 1, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Missouri Type is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Infectious disease and O-linked glycosylation of mucins. Affiliated tissues include bone, and related phenotypes are genu varum and short lower limbs