preferred_name: congenital myopathy 17
preferred_name_lc: congenital myopathy 17
label: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
label_lc: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies