spondyloepiphyseal dysplasia congenita
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
MONDO:0022800
type 2 collagenopathy
is_a
MONDO:0100602
COL2A1-related spondyloepiphyseal dysplasia
is_a
SED congenita
exact
SEDC
exact
Spondyloepiphyseal Dysplasia, Congenital
exact
Spranger-Wiedemann disease
exact
congenital spondyloepiphyseal dysplasia
related
spondyloepiphyseal dysplasia congenita
exact
spondyloepiphyseal dysplasia, congenital type
exact
SPBC11G11.04