A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.
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hip dysplasia, Beukes type
MONDO:0007726
spondyloepiphyseal dysplasia with congenital joint dislocations
MONDO:0007738
Marshall syndrome
MONDO:0007949
metatropic dysplasia
MONDO:0007986
spondyloepiphyseal dysplasia with punctate corneal dystrophy
MONDO:0008470
spondyloepiphyseal dysplasia, MacDermot type
MONDO:0008472