Hermansky-Pudlak syndrome 8

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.

Also known as BLOC1S3 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome caused by mutation in BLOC1S3, Hermansky-Pudlak syndrome type 8, HPS8 — per MONDO

Also identified as

• DOID 0060546 per MONDO
• OMIM 614077 per MONDO
• Orphanet 231537 per MONDO
• UMLS C3888026 per MONDO