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
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