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Disease Ontology Browser
Hermansky-Pudlak syndrome (DOID:3753)
Alliance: disease page
Alt IDs: ICD10CM:E70.331, MESH:D022861, NCI:C37261, OMIM:PS203300, ORDO:231531, ORDO:231537, ORDO:280663, ORDO:79430, UMLS_CUI:C0079504
Definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Disease References using Mouse Models (32)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory