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ID DOID:0060544
PURL http://purl.obolibrary.org/obo/DOID_0060544 Copy
Name Hermansky-Pudlak syndrome 6
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
http://omim.org/entry/614075
Xrefs

MIM:614075

Parent Relationships

is_a Hermansky-Pudlak syndrome

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