DISEASES

Disease-gene associations mined from literature

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