/Hermansky-Pudlak syndrome without pulmonary fibrosis

Hermansky-Pudlak syndrome without pulmonary fibrosis

Rare Disease

MONDO:0016502

Also Known As

HPS without pulmonary fibrosis

Definition

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.