Human genes for Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 5 [DOID:0060543]
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Synonyms: Hermansky-Pudlak syndrome 5, DOID:0060543, HermanskyPudlak syndrome 5