Hermansky-Pudlak syndrome 1
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
MONDO:0016501
Hermansky-Pudlak syndrome with pulmonary fibrosis
is_a
HPS1
related
HPS1 Hermansky-Pudlak syndrome
exact
Hermansky-Pudlak syndrome 1
exact
Hermansky-Pudlak syndrome caused by mutation in HPS1
exact
Hermansky-Pudlak syndrome type 1
exact