preferred_name: spondyloepiphyseal dysplasia, MacDermot type
preferred_name_lc: spondyloepiphyseal dysplasia, macdermot type
label: SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS
label_lc: spondyloepiphyseal dysplasia, myopia, and sensorineural deafness