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Metadata
ID DOID:0060540
Name Hermansky-Pudlak syndrome 2
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.
http://omim.org/entry/608233
Xrefs

MESH:C537709

MIM:608233

Parent Relationships

is_a Hermansky-Pudlak syndrome

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