has material basis in germline mutation in COL2A1 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia COL2A1-related spondyloepiphyseal dysplasia https://github.com/monarch-initiative/mondo/issues/8763 GARD:0027287 MONDO:0100602 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.