Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
oculocutaneous albinism type 1A

Also known as: OCA1A, TYR oculocutaneous albinism, Tyr oculocutaneous albinism, albinism 1, albinism, oculocutaneous, type 1A, albinism, oculocutaneous, type IA, oculocutaneous albinism caused by mutation in TYR, oculocutaneous albinism caused by mutation in Tyr, oculocutaneous albinism type IA, oculocutaneous albinism, type 1, oculocutaneous albinism, tyrosinase-negative, tyrosinase-negative oculocutaneous albinism

oculocutaneous albinism type 1B

Also known as: OCA1B, Oca1-Ts, Yellow albinism, Yellow mutant albinism, Yellow oculocutaneous albinism, albinism, Yellow mutant type, albinism, oculocutaneous, type 1B, albinism, oculocutaneous, type I, temperature-sensitive, albinism, oculocutaneous, type IB, oculocutaneous albinism type IB, oculocutaneous albinism, Amish type, oculocutaneous albinism, type 1B, platinum oculocutaneous albinism

oculocutaneous albinism type 2

Also known as: Albinoidism, Brown oculocutaneous albinism, OCA2, albinism 2, albinism, Brown oculocutaneous, albinism, oculocutaneous, type 2, albinism, oculocutaneous, type II, albinism, oculocutaneous, type II, modifier of, oculocutaneous albinism type 2, oculocutaneous albinism type II, oculocutaneous albinism tyrosinase positive, oculocutaneous albinism, type 2, oculocutaneous albinism, tyrosinase-positive, tyrosinase-positive oculocutaneous albinism

oculocutaneous albinism type 3

Also known as: OCA3, ROCA, Red oculocutaneous albinism, TYRP1 oculocutaneous albinism, Xanthism, albinism 3, albinism, oculocutaneous, type 3, albinism, oculocutaneous, type III, oculocutaneous albinism caused by mutation in TYRP1, oculocutaneous albinism type 3, oculocutaneous albinism type III, oculocutaneous albinism, type 3, rufous OCA, rufous oculocutaneous albinism, xanthous oculocutaneous albinism

oculocutaneous albinism type 4

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

oculocutaneous albinism type 7

Also known as: LRMDA oculocutaneous albinism, OCA7, albinism, oculocutaneous, type 7, albinism, oculocutaneous, type VII, oculocutaneous albinism caused by mutation in LRMDA, oculocutaneous albinism type VII

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