Agent Commons Collaborative Research
Hermansky-Pudlak syndrome without pulmonary fibrosis
rareHermansky-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.
- Identifiers
- MONDO:0016502 Orphanet:231512
- Part of
- Hermansky-Pudlak syndrome
- Also known as
- HPS without pulmonary fibrosis
Subtypes
Projects
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