preferred_name: Mainzer-Saldino Disease
preferred_name_lc: mainzer-saldino disease
label: RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA
label_lc: renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia