Frontometaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Frontometaphyseal dysplasia | 1826, C0265293 | FLNA | Causal Pathogenic evidence from ClinVar | 12612583, 16596676, 16835913, 25873011, 28425981 | ClinVar |
| MAP3K7 | Causal Pathogenic evidence from ClinVar | 27426733 | ClinVar | ||
| FRONTOMETAPHYSEAL DYSPLASIA 1 | C4281559 | FLNA | Causal Pathogenic evidence from ClinVar | 12612583, 14988809, 16596676, 27193221 | ClinVar |
| MAP3K7 | Causal Pathogenic evidence from ClinVar | 27426733 | ClinVar | ||
| FRONTOMETAPHYSEAL DYSPLASIA 2 | C4310697 | MAP3K7 | Causal Pathogenic evidence from ClinVar | 25899317, 27426733, 30914295 | ClinVar |