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Hermansky-Pudlak syndrome without pulmonary fibrosis

Disease Summary
Associated Targets (3)
Tbio

3


Mondo Description Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
Mondo Term and Equivalent IDs
MONDO:0016502:  Hermansky-Pudlak syndrome without pulmonary fibrosis
Orphanet:231512: 
UMLS:CN201507: