Hermansky-Pudlak syndrome 6

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.

Also known as Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome caused by mutation in HPS6, Hermansky-Pudlak syndrome type 6, HPS6 Hermansky-Pudlak syndrome — per MONDO

Also identified as

• DOID 0060544 per MONDO
• NCIT C150369 per MONDO
• OMIM 614075 per MONDO
• UMLS C3888007 per MONDO