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  • albinoidism
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  • oculocutaneous
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  • oculocutaneous albinism
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  • oculocutaneous nevus
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  • oculocutaneous tyrosinemia
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  • albinoidism
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  • albinoidism
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  • oculocutaneous albinism
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  • oculocutaneous nevus
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  • oculocutaneous tyrosinemia
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  • Hermansky-Pudlak syndrome => oculocutaneous albinism
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  • oculocutaneous albinism
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  • oculocutaneous albinism
    ¾ÈÇǺÎÇü¹é»öÁõ(äÑù«Ý±û¡ÛÜßäñø).
  • oculocutaneous albinism
    ´«ÇǺιé»öÁõ, ¾ÈÇǺιé»öÁõ(äÑù«Ý±ÛÜßäñø)
  • oculocutaneous nevi
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  • oculocutaneous telangiectasia
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  • oculocutaneous telangiectasia
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OCA oculocutaneous albinism; olivopontocerebellar atrophy; oral contraceptive agent
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OCA Oculocutaneous albinism
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  • oculocutaneous
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albinism, oculocutaneous Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
(12 Dec 1998)
cephalo-oculocutaneous telangiectasia An angioma involving the skin of the face, orbit, meninges, and brain.
See: Sturge-Weber syndrome.
(05 Mar 2000)
oculocutaneous Relating to the eyes and the skin.
(05 Mar 2000)
oculocutaneous albinism An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic.
There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age.
Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop.
Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade.
Type IV in Africans with normal tyrosinase.
Type V with red hair.
Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase.
Synonym: Hermansky-Pudlak syndrome type VI.
(05 Mar 2000)
oculocutaneous syndrome <syndrome> Bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada's syndrome and sympathetic ophthalmia.
Synonym: oculocutaneous syndrome, uveocutaneous syndrome.
Origin: Cecile and Oscar Vogt
(05 Mar 2000)
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