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Echinobase
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:

Echinobase Genes : hps1


MIM:
MIM:203300 - hermansky-pudlak syndrome 1; hps1

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)