Hermansky-Pudlak syndrome
English
editEtymology
editNamed for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).
Noun
editHermansky-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.