DO_rare_slim DO_FlyBase_slim NCIthesaurus has material basis in has symptom autosomal recessive disease syndrome Hermansky-Pudlak syndrome ORDO:280663 MESH:D022861 UMLS_CUI:C0079504 NCI:C37261 A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. ICD10CM:E70.331 disease_ontology DOID:3753 ORDO:231531 MIM:PS203300 SNOMEDCT_US_2025_09_01:60255003 ORDO:79430 ORDO:231537 GARD:6643 Xref MGI. OMIM mapping confirmed by DO. [SN]. autosomal recessive inheritance bleeding