A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. [ http://purl.obolibrary.org/obo/ECO_0007636 url:http://omim.org/entry/608233 ]
This is just here as a test because I lose it