Disease association ontology term - MONDO:0011997 - Hermansky-Pudlak syndrome 2
Term summary
- ID
- MONDO:0011997
- Name
- Hermansky-Pudlak syndrome 2
- Ontology or CV name
- Disease association
- Definition
- A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.