Oculocutaneous albinism type 4

MONDO:0011683

Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

Also known as: OCA4, SLC45A2 oculocutaneous albinism, oculocutaneous albinism caused by mutation in SLC45A2, albinism, oculocutaneous, type 4, albinism, oculocutaneous, type IV, oculocutaneous albinism type IV, oculocutaneous albinism, type 4

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Skin disorder (132) Inborn errors of metabolism (45) Human disease (14) Skin pigmentation disorder (11) Hereditary skin disorder (6) Oculocutaneous albinism (4) Disease of genetic or genomic mechanism (2)

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