Hermansky-Pudlak syndrome

English

Etymology

Named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).

Noun

Hermansky-Pudlak syndrome (uncountable)

1. A rare autosomal recessive disorder resulting in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and lysosomal accumulation of ceroid lipofuscin.