EC23.20Ангилал
Oculocutaneous albinism
Тодорхойлолт
Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterised by decreased or absent pigmentation in the hair, skin, and eyes.
Индексийн нэр томьёо Index terms · 47
Oculocutaneous albinismOCA - [Oculocutaneous albinism]Oculocutaneous albinism type 1ATyrosinase-negative oculocutaneous albinismAlbinoOCA1A - [Oculocutaneous albinism type 1A]Oculocutaneous albinism type 1BOCA1B - [Oculocutaneous albinism type 1B]Yellow oculocutaneous albinismOculocutaneous albinism, Amish typeMinimal pigment oculocutaneous albinismPlatinum oculocutaneous albinismTemperature sensitive oculocutaneous albinismOCA1-TS - [Temperature-sensitive oculocutaneous albinism]Oculocutaneous albinism type 2OCA2 - [Oculocutaneous albinism type 2]Tyrosinase-positive oculocutaneous albinismBrown oculocutaneous albinismOculocutaneous albinism type 3Rufous oculocutaneous albinismRed oculocutaneous albinismXanthous oculocutaneous albinismXanthismOCA3 - [Oculocutaneous albinism type 3]Oculocutaneous albinism type 4OCA4 - [Oculocutaneous albinism type 4]Hermansky-Pudlak syndromeAlbinism with haemorrhagic diathesis and pigmented reticuloendothelial cellsHPS - [Hermansky-Pudlak syndrome]Hermansky-Pudlak syndrome type 7HPS7 - [Hermansky-Pudlak syndrome type 7] (MIM 614076)Hermansky-Pudlak syndrome type 8HPS8 - [Hermansky-Pudlak syndrome type 8] (MIM 614077)Hermansky-Pudlak syndrome type 9Hermansky-Pudlak syndrome with neutropaeniaHermansky-Pudlak syndrome type 2HPS 2 - [Hermansky-Pudlak syndrome type 2] (MIM 608233)Hermansky-Pudlak syndrome with pulmonary fibrosisHermansky-Pudlak syndrome without pulmonary fibrosisHPS - [Hermansky-Pudlak syndrome] without pulmonary fibrosisChédiak-Higashi syndromeChediak-Higashi-Steinbrinck syndromeChediak-Steinbrinck syndromeBéguez César syndromeSteinbrinck anomalyOculocerebral syndrome with hypopigmentationCross syndrome
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