label: COL2A1-related spondyloepiphyseal dysplasia
label_lc: col2a1-related spondyloepiphyseal dysplasia
description: Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.