DISEASES

Disease-gene associations mined from literature

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