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Summary Literature (4)
DOID:3753 - Hermansky-Pudlak syndrome

Disease Ontology Definition:A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Synonyms: HPS (Hermansky Pudlak syndrome),

Xenbase Genes : hps3, hps6, hps4, bloc1s6, hps1, ap3b1, bloc1s3, dtnbp1, hps5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019312 - Hermansky-Pudlak syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)