Human genes for Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 1 [DOID:0060539]
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Synonyms: Hermansky-Pudlak syndrome 1, DOID:0060539, HermanskyPudlak syndrome 1