Otospondylomegaepiphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Otospondylomegaepiphyseal dysplasia | C4520892, 1427 | COL2A1 | 21922596, 16189708 |
| COL11A2 | 22796475, 16637051, 21438135, 15558753, 10677296, 15141750, 15372529, 11668593, 21208667, 7859284, 9805126, 25780254, 14234962, 22246659, 9506662, 19486694, 15922184, 21204229 | ||
| Autosomal dominant otospondylomegaepiphyseal dysplasia | 166100 | COL2A1 | |
| COL11A2 |