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Summary Literature (0)
MIM:203300 - HERMANSKY-PUDLAK SYNDROME 1; HPS1

Xenbase Genes: hps3, hps4, hps1, dtnbp1, hps5, hps6, bloc1s3

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008748 - Hermansky-Pudlak syndrome 1
MONDO:0016501 - Hermansky-Pudlak syndrome with pulmonary fibrosis
MONDO:0019312 - Hermansky-Pudlak syndrome

Disease Ontology (DO):
DOID:0060539 - Hermansky-Pudlak syndrome 1