| Disease ID | Source | Name | Description |
| 203290 | OMIM | Albinism, oculocutaneous, 3 (OCA3) | An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. The disease is caused by variants affecting the gene represented in this entry. |