Cerebrooculofacioskeletal syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEREBRO-OCULO-FACIO-SKELETAL SYNDROME | ERCC1 | Unknown | — | Disgenet | |
| ERCC2 | Unknown | — | Disgenet | ||
| ERCC5 | Unknown | — | Disgenet | ||
| ERCC6 | Unknown | — | Disgenet | ||
| CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ERCC6 | Causal | CTD ClinVar Disgenet HPO | ||
| ERCC2 | Unknown | — | Disgenet | ||
| PGBD3 | Unknown | — | Disgenet | ||
| CEREBROOCULOFACIOSKELETAL SYNDROME 2 | ERCC2 | Causal | CTD ClinVar Disgenet HPO | ||
| CEREBROOCULOFACIOSKELETAL SYNDROME 3 | ERCC5 | Causal | CTD ClinVar Disgenet GWAS catalog HPO | ||
| BIVM-ERCC5 | Unknown | — | Disgenet | ||
| CEREBROOCULOFACIOSKELETAL SYNDROME 4 | ERCC1 | Causal | CTD ClinVar Disgenet HPO |