short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
MONDO:0018383
osteonecrosis of genetic origin
is_a
MONDO:1060149
ACAN-related short stature spectrum
is_a
OD
exact
SSOAOD
exact
osteochondritis dissecans and short stature
exact
osteochondritis dissecans, short stature, and early-onset osteoarthritis
exact