spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0040566
inherited glutathione metabolism disease
is_a
MONDO:0800080
severe spondylodysplastic dysplasia
is_a
SMDS
related
lethal metaphyseal dysplasia
related
spondylometaphyseal dysplasia Sedaghatian type
related
spondylometaphyseal dysplasia, Sedaghatian type
exact
SPBC32F12.03c