has material basis in germline mutation in HPS4 Hermansky-Pudlak syndrome 4 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/hermansky_pudlak_syndrome_4 OMIM:614073 UMLS:C3484357 HPS4-related Hermansky-Pudlak syndrome GARD:0018332 HPS4 Hermansky-Pudlak syndrome Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene that disrupts biogenesis of lysosome‑related organelles, resulting in melanosome defects and absence of platelet dense bodies. The core phenotype comprises oculocutaneous albinism with reduced visual acuity and nystagmus, and a platelet‑type bleeding tendency. Pulmonary fibrosis and/or granulomatous colitis may occur in this subtype. HPS4 DOID:0060542 MEDGEN:483344 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome caused by mutation in HPS4 MONDO:0013556 Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome