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Metadata
ID DOID:0060542
Name Hermansky-Pudlak syndrome 4
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
http://omim.org/entry/614073
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OMIM:614073

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is_a Hermansky-Pudlak syndrome

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