Disease Term Disease ID Gene Symbol References
Achondrogenesis type 2 C0220685, 93296 COL2A1 17994563, 15054848, 2543071, 20513134, 2572591, 10797431, 21922596, 15316962, 7829510, 7741714, 7757081, 7757086, 10745044
Achondrogenesis, type IB (disorder) C0265274 SLC26A2 26375458, 21922596, 15294877, 15316973, 21155763, 21077204, 12966518, 10482955, 11448940, 8571951, 8931695, 11241838, 9342225, 18925670, 16642506, 8528239, 21077202, 20219950, 20525296, 12525546, 10465113, 20592910
Achondrogenesis type 1A C0265273, 93299 TRIP11 20089971
Achondrogenesis type 1B 93298 SLC26A2