| Disease ID | Source | Name | Description |
| 616400 | OMIM | Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) | A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma 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. |
| 614594 | OMIM | Olmsted syndrome (OLMS) | A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. The disease is caused by variants affecting the gene represented in this entry. |