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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: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)