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Summary Literature (0)
DOID:0060539 - Hermansky-Pudlak syndrome 1

Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.

Synonyms:

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008748 - Hermansky-Pudlak syndrome 1


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Hermansky-Pudlak syndrome (is_a)