Mandibulofacial dysostosis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Mandibulofacial Dysostosis | C0242387 | EDNRA | 20583178 |
| TCOF1 | 9042910, 20003452, 9736782, 14598341, 8741923, 12114482, 8894686, 21951868, 16938878, 11013442, 22317976 | ||
| EFTUD2 | |||
| POLR1C | 21131976 | ||
| POLR1D | 21131976 | ||
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | C1855433 | POLR1C | 9653160, 29567474, 21131976, 26151409 |