DISEASES

Disease-gene associations mined from literature

Human genes for Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome [DOID:3753]

An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Synonyms:  Hermansky-Pudlak syndrome,  DOID:3753,  HermanskyPudlak syndrome,  Hermansky-Pudlak disease,  Hermansky-Pudlak disorder ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9