COL2A1-related spondyloepiphyseal dysplasia
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.
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SPBC11G11.04