Human genes for Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 7 [DOID:0060545]
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Synonyms: Hermansky-Pudlak syndrome 7, DOID:0060545, HermanskyPudlak syndrome 7