Hermansky-Pudlak syndrome without pulmonary fibrosis
Hermansky-Pudlak syndrome 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.
Also known as HPS without pulmonary fibrosis — per MONDO