Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.
Comprehensive, easy-to-understand information about this condition
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Hermansky-Pudlak syndrome 2
MONDO:0011997
Hermansky-Pudlak syndrome 7
MONDO:0013559
Hermansky-Pudlak syndrome 8
MONDO:0013560
Hermansky-Pudlak syndrome 9
MONDO:0013606
Hermansky-Pudlak syndrome with pulmonary fibrosis
MONDO:0016501
Hermansky-Pudlak syndrome without pulmonary fibrosis
MONDO:0016502