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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00206 | Mevalonate kinase deficiency | Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia ... | Inherited metabolic disorder | MVK [HSA:4598] [KO:K00869] | |
| H01933 | Porokeratosis | Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, ... | Congenital malformation |
(POROK1) PMVK [HSA:10654] [KO:K13273] (POROK3) MVK [HSA:4598] [KO:K00869] (POROK7) MVD [HSA:4597] [KO:K01597] (POROK8) SLC17A9 [HSA:63910] [KO:K12303] (POROK9) FDPS [HSA:2224] [KO:K00787] |
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