Hermansky-Pudlak syndrome 9
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.
MONDO:0015541
hereditary hemophagocytic lymphohistiocytosis
is_a
MONDO:0019312
Hermansky-Pudlak syndrome
is_a
BLOC1S6 Hermansky-Pudlak syndrome
exact
HPS9
exact
Hermansky-Pudlak syndrome 9
exact
Hermansky-Pudlak syndrome caused by mutation in BLOC1S6
exact
Hermansky-Pudlak syndrome type 9
exact