Hoyeraal-hreidarsson syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| HOYERAAL-HREIDARSSON SYNDROME | C1846142, 3322 | DKC1 | 10583221 |
| PARN | 25893599 | ||
| TERC | 12525685 | ||
| TERT | 17785587, 23335200 | ||
| TINF2 | 22078571, 18669893, 21199492 | ||
| RTEL1 | 23453664, 23329068 | ||
| NOP10 | 17507419 | ||
| NHP2 | 20008900 | ||
| DCLRE1B | 20479256 | ||
| ACD | 25233904 |