has material basis in germline mutation in BLOC1S5 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 11 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/hermansky_pudlak_syndrome_11 BLOC1S5-related Hermansky-Pudlak syndrome MONDO:0030903 HPS11 A Hermansky-Pudlak syndrome caused by biallelic variants in the BLOC1S5 gene, resulting in melanosome defects and absence of platelet dense granules, and characterized by mild oculocutaneous albinism with reduced visual acuity and a moderate platelet-type bleeding diathesis with impaired platelet aggregation and ATP release. Reported cases to date suggest a relatively mild systemic course compared with other subtypes. UMLS:C5436936 GARD:0018339 MEDGEN:1727728 OMIM:619172