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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00722 | Epidermolytic palmoplantar keratoderma | Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow ... | Congenital malformation |
(EPPK1) KRT9 [HSA:3857] [KO:K07604] (EPPK2) KRT1 [HSA:3848] [KO:K07605] |
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| H02263 | Focal nonepidermolytic palmoplantar keratoderma | Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful ... | Congenital malformation |
(FNEPPK1) KRT16 [HSA:3868] [KO:K07604] (FNEPPK2) TRPV3 [HSA:162514] [KO:K04972] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |