Diamond-blackfan anemia with mandibulofacial dysostosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | C4225411 | RPS28 | Causal Pathogenic evidence from ClinVar | 24942156 | ClinVar |
| DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | C4225422 | TSR2 | Causal Pathogenic evidence from ClinVar | 24942156 | ClinVar |