Aplasia cutis congenita
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| APLASIA CUTIS CONGENITA | BMS1 | Causal | ClinVar Disgenet GWAS catalog Orphanet | ||
| DLL4 | Unknown | Disgenet GenCC Orphanet | |||
| ITGB4 | Unknown | Disgenet GWAS catalog Orphanet | |||
| PLEC | Unknown | ClinGen Disgenet Orphanet | |||
| UBA2 | Unknown | Disgenet Orphanet | |||
| APLASIA CUTIS CONGENITA, NONSYNDROMIC | BMS1 | Unknown | — | HPO |