Kniest dysplasia
A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0022800
type 2 collagenopathy
is_a
Kniest dysplasia
exact