Pronunciation: har-mon'ske pud'lok
Definition: a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.
[F. Hermansky, P. Pudlak]
See Also: oculocutaneous albinism
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.