A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. [ url:http://omim.org/entry/614076 http://purl.obolibrary.org/obo/ECO_0007636 ]

This is just here as a test because I lose it

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disease_ontology

id

DOID:0060545

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