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