| Term Name: | Hermansky-Pudlak syndrome 4 |
|---|---|
| Synonyms: | |
| Definition: | A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. |
| Ontology: | Human Disease [DOID:0060542] ( DOID:0060542 ) |