| Metadata | |
|---|---|
| ID | DOID:0060539 |
| Name | Hermansky-Pudlak syndrome 1 |
| Definition | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. http://omim.org/entry/203300 |
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