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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:
Xenbase Genes : bloc1s6
MONDO:0013606 - Hermansky-Pudlak syndrome 9 |
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)