preferred_name: spondyloepimetaphyseal dysplasia, sponastrime type
preferred_name_lc: spondyloepimetaphyseal dysplasia, sponastrime type
label: short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
label_lc: short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation