Urofacial syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| UROFACIAL SYNDROME | HPSE2 | Unknown | CTD Orphanet | ||
| LRIG2 | Unknown | CTD Orphanet | |||
| UROFACIAL SYNDROME 1 | HPSE2 | Unknown | — | HPO | |
| UROFACIAL SYNDROME 2 | LRIG2 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| UROFACIAL SYNDROME TYPE 1 | HPSE2 | Causal | ClinVar GWAS catalog |