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Echinobase
Summary Literature (0)
DOID:3753 - Hermansky-Pudlak syndrome

Disease Ontology 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.

Synonyms: HPS (Hermansky Pudlak syndrome),

Echinobase Genes : hps1



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

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