Hermansky-Pudlak Syndrome 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the AP3B1 gene, encoding AP-3 complex subunit beta-1. Immunodeficiency due to neutropenia is a characteristic of this sub-type.

**Synonyms:** - HPS2