Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Disease Term Disease ID Gene Symbol References
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225373 CHRNB1 616314
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225370 CHRND 16916845, 11435464, 18398509
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225368 MUSK 24183479, 23326516, 19949040, 15496425, 20371544, 25612909
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225367 RAPSN 11791205, 12796535, 12929188, 21305573, 19620612, 14504330, 15328566, 22678886, 15286164, 12730725, 24319099, 15036330, 12807980, 16945936, 17594401, 17190963, 20157724, 25194721, 16931511, 21228398