Hermansky-Pudlak syndrome 11 Disease Ontology Browser

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Disease Ontology Browser

Hermansky-Pudlak syndrome 11 (DOID:0061301)
Alliance: disease page
Definition: A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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