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Echinobase
Summary Literature (0)
DOID:0060547 - Hermansky-Pudlak syndrome 9

Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.

Synonyms:

Echinobase Genes :


OMIM:
MIM:614171 - hermansky-pudlak syndrome 9; hps9

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)