| Term Name: | Hermansky-Pudlak syndrome 9 |
|---|---|
| Synonyms: | |
| Definition: | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. |
| Ontology: | Human Disease [DOID:0060547] ( DOID:0060547 ) |