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Metadata
ID DOID:0060547
Name Hermansky-Pudlak syndrome 9
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
http://omim.org/entry/614171
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OMIM:614171

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is_a Hermansky-Pudlak syndrome

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