Hermansky-Pudlak syndrome 7

Definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.

Also known as DTNBP1 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome caused by mutation in DTNBP1, Hermansky-Pudlak syndrome type 7, HPS7 — per MONDO

Also identified as

• DOID 0060545 per MONDO
• OMIM 614076 per MONDO
• Orphanet 231531 per MONDO
• UMLS C3279756 per MONDO