| Disease ID | Source | Name | Description |
| 606574 | OMIM | Albinism, oculocutaneous, 4 (OCA4) | A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. The disease is caused by variants affecting the gene represented in this entry. |