| Metadata | |
|---|---|
| ID | DOID:0060545 |
| Name | Hermansky-Pudlak syndrome 7 |
| Definition | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. http://omim.org/entry/614076 |
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