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Summary Literature (0)
DOID:0060545 - Hermansky-Pudlak syndrome 7

Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.

Synonyms:

Xenbase Genes : dtnbp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013559 - Hermansky-Pudlak syndrome 7


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

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