| Disease ID | Source | Name | Description |
| 113750 | OMIM | Albinism, oculocutaneous, 6 (OCA6) | A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. The disease is caused by variants affecting the gene represented in this entry. |