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DOID:0060540 - Hermansky-Pudlak syndrome 2
Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
Synonyms:
Xenbase Genes : ap3b1
MONDO:0011997 - Hermansky-Pudlak syndrome 2 |
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)