Disease Term Disease ID Gene Symbol References
Smith-Lemli-Opitz Syndrome C0175694, 818 DHCR7 22382802, 11230174, 11078571, 17441222, 23042628, 24500076, 20694756, 27401223, 10405455, 10814720, 10710236, 10995508, 22211794, 10896306, 9683613, 17497248, 11453964, 11560960, 16392899, 15862627, 18249054, 16044199, 11241839, 21990131, 20052364, 15521979, 27513191, 9634533, 15464432, 22438180, 12818773, 12949967, 15805162, 26969503, 28503313, 9678700, 15896653, 10677299, 15952211, 21696385, 12270273, 25040602, 12070263, 17237122, 21777499, 10905895, 22929031, 11427181, 28166604, 11175299, 19365639, 10215064, 17994283, 19390132, 22226660, 21706511, 12906934, 15776424, 15954111, 15013448, 16983147, 23918729, 20014133, 16446309, 11254748, 9653161, 11111101, 28349652, 16497572, 20556518, 12914579, 27097157, 16814115, 15670717, 18076100, 16181459, 15979035, 14981719, 29698737, 23293579, 16207203, 22391996, 10602371, 14659996, 3812577, 24824134, 14556255, 18006960, 11767235, 11161831, 20635399, 15877207, 25637936, 11745994, 22975760, 20104611, 10807690, 17965227
Smith-Lemli-Opitz Syndrome, Type I C0282643 DHCR7 19365639, 14659996, 16446309, 15896653, 12906934, 17994283, 11254748, 12818773, 27097157, 29698737, 16814115
Smith-Lemli-Opitz Syndrome, Type II C0282644 DHCR7 12818773, 29698737, 16814115, 14659996, 16446309, 19365639, 11254748, 27097157, 12906934, 15896653, 17994283