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oculocutaneous albinism type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0008747:  oculocutaneous albinism type 3
GARD:0004039: 
GARD:0009641: 
MESH:C537731: 
Orphanet:79433: 
SCTID:63450009: