About   Help   FAQ
Disease Ontology Browser
Hermansky-Pudlak syndrome (DOID:3753)
Alliance: disease page
Alt IDs: ICD10CM:E70.331, MESH:D022861, NCI:C37261, ORDO:231531, ORDO:231537, ORDO:280663, ORDO:79430, UMLS_CUI:C0079504
Definition: An autosomal recessive disease 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 (30)

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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/18/2020
MGI 6.14
The Jackson Laboratory