Human genes for Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 4 [DOID:0060542]
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Synonyms: Hermansky-Pudlak syndrome 4, DOID:0060542, HermanskyPudlak syndrome 4