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Hermansky-Pudlak syndrome with pulmonary fibrosis
Disease Summary
Associated Targets (9)
Tbio
9
Mondo Description Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
Mondo Term and Equivalent IDs
MONDO:0016501: Hermansky-Pudlak syndrome with pulmonary fibrosis