| Disease ID | Source | Name | Description |
| 613000 | OMIM | Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) | A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. The disease is caused by variants affecting the gene represented in this entry. |
| 167200 | OMIM | Pachyonychia congenita 1 (PC1) | An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. The disease is caused by variants affecting the gene represented in this entry. |