Regressive spondylometaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | C4747922 | LBR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 12490533, 19940018, 21327105, 23824842, 25348816 | - |
| Regressive spondylometaphyseal dysplasia | 448267 | LBR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |