Term Name:	Hermansky-Pudlak syndrome 2
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0060540]   ( DOID:0060540 )