Disease association ontology term - MONDO:0019312 - Hermansky-Pudlak syndrome
Term summary
- ID
- MONDO:0019312
- Name
- Hermansky-Pudlak syndrome
- Ontology or CV name
- Disease association
- Definition
- Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
