Rothmund-thomson syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Rothmund-Thomson syndrome | C0032339 | RECQL4 | 17250521, 10678659, 9934984, 18616953, 19567405, 12915449, 12838562, 11471165, 12734318, 15703196, 19291770, 10319867, 20503338, 16630167 |
| Rothmund-Thomson syndrome type 1 | 221008 | ANAPC1 | |
| Rothmund-Thomson syndrome type 2 | 221016 | RECQL4 |