Hermansky-Pudlak syndrome 4

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.

Also known as Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome caused by mutation in HPS4, Hermansky-Pudlak syndrome type 4, HPS4 Hermansky-Pudlak syndrome — per MONDO

Also identified as

• DOID 0060542 per MONDO
• OMIM 614073 per MONDO
• UMLS C3484357 per MONDO