Human genes for Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome [DOID:3753]
A syndrome 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