Hermansky-Pudlak syndrome 7
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
MONDO:0019312
Hermansky-Pudlak syndrome
is_a
DTNBP1 Hermansky-Pudlak syndrome
exact
HPS7
exact
Hermansky-Pudlak syndrome 7
exact
Hermansky-Pudlak syndrome caused by mutation in DTNBP1
exact
Hermansky-Pudlak syndrome type 7
exact