Hermansky-Pudlak syndrome 9

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.

Also known as BLOC1S6 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome caused by mutation in BLOC1S6, Hermansky-Pudlak syndrome type 9, HPS9 — per MONDO

Also identified as

• DOID 0060547 per MONDO
• OMIM 614171 per MONDO
• Orphanet 280663 per MONDO
• UMLS C3280026 per MONDO