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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