Acrofacial dysostosis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Acrofacial Dysostosis | C1332140 | POLR1A | 25434003 |
| Acrofacial dysostosis Rodriguez type | C1860119 | SF3B4 | 27642715 |
| ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | C4225317 | POLR1A | 25434003, 25913037 |
| Acrofacial dysostosis, Rodr guez type | 1788 | SF3B4 | |
| Acrofacial dysostosis, Weyers type | 952 | EVC | |
| EVC2 |