Hermansky-Pudlak syndrome

التعريفات والمعاني

== English == === Etymology === Named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993). === Noun === Hermansky-Pudlak syndrome (uncountable) A rare autosomal recessive disorder resulting in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and lysosomal accumulation of ceroid lipofuscin.