spondyloepiphyseal dysplasia, Kimberley type
A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
MONDO:1060149
ACAN-related short stature spectrum
is_a
SEDK
related
spondyloepiphyseal dysplasia, Kimberley type
exact