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Metadata
ID	DOID:3753
Name	Hermansky-Pudlak syndrome
Definition	A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract
Xrefs	GARD:6643 ICD10CM:E70.331 MESH:D022861 MIM:PS203300 NCI:C37261 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2023_03_01:60255003 UMLS_CUI:C0079504
Subsets	DO_FlyBase_slim DO_rare_slim NCIthesaurus
Parent Relationships	is_a syndrome is_a autosomal recessive disease