Hermansky-Pudlak syndrome 5

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.

Also known as Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome caused by mutation in HPS5, Hermansky-Pudlak syndrome type 5, HPS5 Hermansky-Pudlak syndrome — per MONDO

Also identified as

• DOID 0060543 per MONDO
• OMIM 614074 per MONDO
• UMLS C3888004 per MONDO