Term Name: | Hermansky-Pudlak syndrome 4 |
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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 ) |