Disease Term Disease ID Gene Symbol References
Hyperphosphatasia with Mental Retardation C1855923 PIGL 25706356
PGAP2 23561847, 23561846
PIGV 24129430, 21739589, 20802478, 22228761, 22315194
PIGO 22683086
PIGY 26293662
PGAP3 24439110
PIGW 24367057
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 C4551502 PIGG
PIGV 21739589, 20802478, 22228761, 27604308, 22315194, 24129430
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 C3553637 PIGO 28545593, 24417746, 22683086, 28337824, 27604308, 24129430, 24049131
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 C3810354 PGAP3 28390064, 27120253, 24439110, 30217754
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 C4225201 PIGY 26293662
PYURF
Hyperphosphatasia-intellectual disability syndrome 247262 PIGV
PIGL
PIGO
PGAP2
PGAP3
PIGW
PIGY