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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0011997 - coelom

MIM:
MIM:608233 - HERMANSKY-PUDLAK SYNDROME 2; HPS2

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)