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Metadata
ID DOID:0060539
Name Hermansky-Pudlak syndrome 1
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
http://omim.org/entry/203300
Xrefs

OMIM:203300

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is_a Hermansky-Pudlak syndrome

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