Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: perp (Xtr)

erythrokeratodermia variabilis

Disease
Source: DOID:0050467
Definition: A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
Genes: perp (Xtr)

mutilating palmoplantar keratoderma with periorificial keratotic plaques

Disease
Source: DOID:0112011
Definition: A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
Genes: perp (Xtr)