Regressive spondylometaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | C4747922 | LBR | 21327105, 23824842, 19940018, 25348816, 12490533 |
| Regressive spondylometaphyseal dysplasia | 448267 | LBR |