| Disease ID | Source | Name | Description |
| 248450 | OMIM | Manitoba oculotrichoanal syndrome (MOTA) | A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. The disease is caused by variants affecting the gene represented in this entry. |
| 608980 | OMIM | Bifid nose, with or without anorectal and renal anomalies (BNAR) | A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. The disease is caused by variants affecting the gene represented in this entry. |
| 614485 | OMIM | Trigonocephaly 2 (TRIGNO2) | A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. The disease is caused by variants affecting the gene represented in this entry. |