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ENHermansky-Pudlak Syndrome 11 (HPS11)
Alias:
Hps11
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Hermansky-Pudlak Syndrome 11, also known as hps11, is related to oculocutaneous albinism, type viii and albinism. An important gene associated with Hermansky-Pudlak Syndrome 11 is BLOC1S5 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5). Affiliated tissues include skin, and related phenotypes are nystagmus and reduced visual acuity
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MALACARDS
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