preferred_name: spondyloepimetaphyseal dysplasia, PAPSS2 type
preferred_name_lc: spondyloepimetaphyseal dysplasia, papss2 type
label: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
label_lc: brachyolmia type 4 with mild epiphyseal and metaphyseal changes