Generalized dominant dystrophic epidermolysis bullosa
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | C0432322 | COL7A1 | Causal Pathogenic evidence from ClinVar | 2653224, 7861014, 8170945, 9215684, 9668111, 9740253, 9856843, 10084325, 10232406, 10232407, 10232408, 10233777, 10836608, 11142768, 11781296, 11874498, 16965329, 20598510, 23616197 | ClinVar |