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
- Any Hermansky-Pudlak syndrome in which the cause of the disease is a variation in the AP3B1 gene that impairs the formation of lysosome‑related organelles, including melanosomes and platelet dense granules. It presents with oculocutaneous albinism and a platelet‑type bleeding diathesis from dense‑granule deficiency. A distinguishing feature is immunodeficiency with neutropenia and recurrent infections; pulmonary complications can occur.
