Hermansky-Pudlak syndrome 8
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.
MONDO:0019312
Hermansky-Pudlak syndrome
is_a
BLOC1S3 Hermansky-Pudlak syndrome
exact
HPS8
exact
Hermansky-Pudlak syndrome 8
exact
Hermansky-Pudlak syndrome caused by mutation in BLOC1S3
exact
Hermansky-Pudlak syndrome type 8
exact