Oculodentodigital dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Oculo-dento-digital syndrome | C0812437 | GJA1 | 16378922, 1057461, 24508941, 21670345, 23550541, 16816024, 21273537, 24357685 |
| PTCH1 | 19032739 | ||
| PTCH2 | 18285427, 23479190 | ||
| SUFU | 25403219, 22829011, 19533801 | ||
| Oculodentodigital dysplasia | 2710 | GJA1 | |
| Oculodentodigital Dysplasia, Autosomal Recessive | C2749477 | GJA1 | 19338053, 18946008, 27226478, 18003637, 23550541, 21670345, 17901047, 25388818 |