spondyloepimetaphyseal dysplasia, PAPSS2 type
A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
BCYM4
related
brachyolmia 4 with mild epiphyseal and metaphyseal changes
exact
brachyolmia type 4 with mild epiphyseal and metaphyseal changes
related
spondyloepimetaphyseal dysplasia, Pakistani type
exact
SPBC27.08c SPAC1782.11