mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
MONDO:0100602
COL2A1-related spondyloepiphyseal dysplasia
is_a
MONDO:1030002
dysplasia of the proximal femoral epiphyses
is_a
OSCDP
related
osteoarthritis with mild chondrodysplasia
related