Disease Term Disease ID Gene Symbol References
Cartilage-hair hypoplasia C0220748, 175 RMRP 16244706, 20375313, 19626344, 17701897, 17937437, 23315997, 25046119, 16832578, 27569544, 11207361, 21956908, 14608646, 8444246, 16838329, 12107819, 18804272, 21396580, 25663137, 16254002, 18164267, 2328993, 17189938, 17015150, 14569125, 20112607