Disease Term Disease ID Gene Symbol References
Hermanski-Pudlak Syndrome C0079504 CP
HPS1 9497254, 31064749, 20662851, 14510955, 16185271, 8896559
AP3B1 14566336
AP3D1 26744459
HPS5 31064749
BLOC1S6
MARK4
HPS6 31064749
DTNBP1 31064749
HPS3 25525159, 11590544
HPS4
BLOC1S3
HERMANSKY-PUDLAK SYNDROME 10 C4310746 AP3D1 26744459
HERMANSKY-PUDLAK SYNDROME 2 C1842362 AP3B1 14566336, 28585318, 10024875, 26684649, 16551969, 11590544
HERMANSKY-PUDLAK SYNDROME 3 C3888001 CP
HPS3 11590544, 28284561, 11455388
HERMANSKY-PUDLAK SYNDROME 4 C3484357 HPS4 11836498, 29108692, 15108212
HERMANSKY-PUDLAK SYNDROME 5 C3888004 HPS5 26785811, 28296950, 12548288, 15296495, 28640947
HERMANSKY-PUDLAK SYNDROME 6 C3888007 HPS6 12548288, 19843503, 17041891
HERMANSKY-PUDLAK SYNDROME 7 C3279756 DTNBP1 28259707, 12923531
HERMANSKY-PUDLAK SYNDROME 8 C3888026 MARK4
BLOC1S3 22709368, 16385460
HERMANSKY-PUDLAK SYNDROME 9 C3280026 BLOC1S6 21665000, 26575419, 22461475, 29054114
Hermansky-Pudlak syndrome type 7 231531 DTNBP1
Hermansky-Pudlak syndrome type 8 231537 BLOC1S3
Hermansky-Pudlak syndrome type 9 280663 BLOC1S6