Hermansky-Pudlak Syndrome 6

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS6 gene, encoding Hermansky-Pudlak syndrome 6 protein. Individuals with this type of syndrome, as well as with types 3 or 5, have the mildest symptoms.

**Synonyms:** - HPS6