| | Disease name | Disease category |
MCAHS2 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
GPIBD16 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
GPIBD17 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
GPIBD14 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
MCAHS4 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
HPMRS6 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
CHIME | H01487 | CHIME syndrome | Inherited metabolic disorder |
HPMRS5 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
PIGM-CDG | H01127 | PIGM-congenital disorder of glycosylation | Inherited metabolic disorder |
HPMRS1 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
MCAHS1 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
GPIBD20 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
HPMRS2 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
GPIBD13 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
GPIBD15 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
GPIBD22 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
GPIBD18 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
MCAHS3 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | Inherited metabolic disorder |
GPIBD21 | H01489 | Inherited glycosylphosphatidylinositol deficiencies | Inherited metabolic disorder |
MRT42 | H01485 | Autosomal recessive mental retardation-42 | Inherited metabolic disorder |
HPMRS4 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |
HPMRS3 | H01488 | Hyperphosphatasia with mental retardation syndrome | Inherited metabolic disorder |