| Metadata | |
|---|---|
| ID | DOID:0060542 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060542 Copy |
| Name | Hermansky-Pudlak syndrome 4 |
| Definition | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. http://omim.org/entry/614073 |
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