A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. [ http://purl.obolibrary.org/obo/ECO_0007636 url:http://omim.org/entry/614073 ]

This is just here as a test because I lose it

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has obo namespace

disease_ontology

id

DOID:0060542

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