preferred_name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
preferred_name_lc: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
label: SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS
label_lc: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness