Disease ID | Source | Name | Description |
615735 | OMIM | Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) | A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. The disease is caused by variants affecting the gene represented in this entry. |