Hermansky-Pudlak Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - HPS1