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Metadata
ID DOID:0060541
Name Hermansky-Pudlak syndrome 3
Definition A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
http://omim.org/entry/614072
Xrefs

OMIM:614072

Parent Relationships

is_a Hermansky-Pudlak syndrome

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