Microphthalmia with coloboma
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Colobomatous microphthalmia | 98938 | SHH | |
| STRA6 | |||
| VSX2 | |||
| GDF6 | |||
| GDF3 | |||
| ABCB6 | |||
| TENM3 | |||
| RBP4 | |||
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 | C4225330 | RBP4 | 25910211 |
| FFAR4 | |||
| Microphthalmia, Isolated, with Coloboma 3 | C1864721 | VSX2 | 17919464, 27301076, 24033328, 10932181, 15257456 |
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) | C1968843 | SHH | 12567406, 22897141, 12503095 |
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 | C3150968 | GDF3 | 19864492 |
| GDF6 | 17236135 | ||
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | C3281027 | PAX6 | |
| ABCB6 | 22226084, 29903433 | ||
| YAP1 | |||
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 | C3540845 | STRA6 | |
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 | C3554592 | TENM3 | 22766609 |