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.
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Stickler syndrome type 1
MONDO:0007160
hip dysplasia, Beukes type
MONDO:0007726
spondyloepiphyseal dysplasia with congenital joint dislocations
MONDO:0007738
Marshall syndrome
MONDO:0007949
metatropic dysplasia
MONDO:0007986
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008469