preferred_name: spondyloepimetaphyseal dysplasia, Bieganski type
preferred_name_lc: spondyloepimetaphyseal dysplasia, bieganski type
label: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
label_lc: spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy