Hermansky-Pudlak syndrome 10

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.

Also known as AP3D1 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10; HPS10, Hermansky-Pudlak syndrome caused by mutation in AP3D1, Hermansky-Pudlak syndrome type 10, HPS10 — per MONDO

Also identified as

• OMIM 617050 per MONDO
• Orphanet 664511 per MONDO
• UMLS C4310746 per MONDO