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Summary Literature (2)
DOID:0060544 - Hermansky-Pudlak syndrome 6

Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Synonyms:

Xenbase Genes : hps6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013558 - Hermansky-Pudlak syndrome 6


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)