has material basis in germline mutation in AP3B1 Hermansky-Pudlak syndrome 2 https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 https://www.malacards.org/card/hermansky_pudlak_syndrome_2_2 https://www.malacards.org/card/hermansky_pudlak_syndrome_due_to_ap3b1_deficiency https://www.malacards.org/card/hermansky_pudlak_syndrome_due_to_ap_3_deficiency HPS-2 OMIM:608233 AP3B1 Hermansky-Pudlak syndrome GARD:0015026 MESH:C537709 MEDGEN:374912 Hermansky-Pudlak syndrome with neutropenia NCIT:C150368 Orphanet:183678 Hermansky-Pudlak syndrome caused by mutation in AP3B1 MONDO:0011997 HPS2 NANDO:2200733 Platelet defects and oculocutaneous albinism A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. DOID:0060540 UMLS:C1842362 Hermansky Pudlak syndrome 2 Orphanet:664500 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome type 2 constitutional neutropenia hereditary hemophagocytic lymphohistiocytosis Hermansky-Pudlak syndrome