Hermansky-Pudlak syndrome 3

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.

Also known as Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome caused by mutation in HPS3, Hermansky-Pudlak syndrome type 3, HPS3 Hermansky-Pudlak syndrome — per MONDO

Also identified as

• DOID 0060541 per MONDO
• OMIM 614072 per MONDO
• UMLS C3888001 per MONDO