Focal dermal hypoplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Focal dermal hypoplasia | 2092 | PORCN | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Focal Dermal Hypoplasia | C0016395 | PORCN | Causal Pathogenic evidence from ClinVar | 13948891, 17546030, 17546031, 18325042, 19277062, 19309688, 19586929, 19863546, 21472892 | ClinVar |