Hermansky-Pudlak syndrome 2

Definition

A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

Also known as AP3B1 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome caused by mutation in AP3B1, Hermansky-Pudlak syndrome type 2, HPS-2, HPS2 — per MONDO

Also identified as

• DOID 0060540 per MONDO
• MESH C537709 per MONDO
• NCIT C150368 per MONDO
• OMIM 608233 per MONDO
• Orphanet 183678 per MONDO
• Orphanet 664500 per MONDO
• UMLS C1842362 per MONDO