spondyloepimetaphyseal dysplasia, aggrecan type
A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
MONDO:1060149
ACAN-related short stature spectrum
is_a
SEMD, aggrecan type
exact
SEMDAG
related
spondyloepimetaphyseal dysplasia, aggrecan type
exact