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ID | DOID:0060540 |
Name | Hermansky-Pudlak syndrome 2 |
Definition | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. http://omim.org/entry/608233 |
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