label: Hermansky-Pudlak Syndrome 1
label_lc: hermansky-pudlak syndrome 1
description: "An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS1 gene, encoding Hermansky-Pudlak syndrome 1 protein. This sub-type is associated with pulmonary fibrosis."