Hermansky-Pudlak syndrome
(redirected from Hermanski-pudlak syndrome)Her·man·sky-Pud·lak syn·drome
(hār-mon'skē pūd'lok), [MIM*203300]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.
See also: oculocutaneous albinism.
See also: oculocutaneous albinism.
[F. Hermansky, P. Pudlak]
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Hermansky-Pudlak Syndrome (HPS)
A rare type of albinism characterized by a problem with blood clotting and a buildup of waxy material in lungs and intestines.
Mentioned in: Albinism
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
Hermansky,
F., Czech physician.Hermansky-Pudlak syndrome - autosomanl recessive trait characterized by early fibromatosis and related abnormalities.
Pudlak,
P., 20th century Czech physician.Hermansky-Pudlak syndrome - see under Hermansky
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