Hermansky-Pudlak syndrome 1

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.

Also known as Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome caused by mutation in HPS1, Hermansky-Pudlak syndrome type 1, HPS1 Hermansky-Pudlak syndrome — per MONDO

Also identified as

• DOID 0060539 per MONDO
• MESH C538539 per MONDO
• NCIT C150367 per MONDO
• OMIM 203300 per MONDO
• UMLS C2931875 per MONDO