| Metadata | |
|---|---|
| ID | DOID:0060546 |
| Name | Hermansky-Pudlak syndrome 8 |
| Definition | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. http://omim.org/entry/614077 |
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| Parent Relationships |