| Disease ID | Source | Name | Description |
| 119500 | OMIM | Popliteal pterygium syndrome (PPS) | An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. The disease is caused by variants affecting the gene represented in this entry. |
| 119300 | OMIM | Van der Woude syndrome 1 (VWS1) | An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. The disease is caused by variants affecting the gene represented in this entry. |
| 608864 | OMIM | Non-syndromic orofacial cleft 6 (OFC6) | A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Disease susceptibility is associated with variants affecting the gene represented in this entry. |