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ID DOID:0060543
PURL http://purl.obolibrary.org/obo/DOID_0060543 Copy
Name Hermansky-Pudlak syndrome 5
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
http://omim.org/entry/614074
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MIM:614074

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is_a Hermansky-Pudlak syndrome

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