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Entry | Name | Description | Category | Pathway | Gene |
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H01488 |
Hyperphosphatasia with mental retardation syndrome Mabry syndrome |
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase ... | Inherited metabolic disorder |
(HPMRS1) PIGV [HSA:55650] [KO:K07542] (HPMRS2) PIGO [HSA:84720] [KO:K05288] (HPMRS3) PGAP2 [HSA:27315] [KO:K23552] (HPMRS4) PGAP3 [HSA:93210] [KO:K23553] (HPMRS5) PIGW [HSA:284098] [KO:K05283] (HPMRS6) PIGY [HSA:84992] [KO:K11001] |
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H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | Inherited metabolic disorder |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] |
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