| Disease ID | Source | Name | Description |
| 131800 | OMIM | Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) | A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. The disease is caused by variants affecting the gene represented in this entry. |
| 131760 | OMIM | Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) | A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 131900 | OMIM | Epidermolysis bullosa simplex, Koebner type (K-EBS) | A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. The disease is caused by variants affecting the gene represented in this entry. |
| 161000 | OMIM | Naegeli-Franceschetti-Jadassohn syndrome (NFJS) | A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. The disease is caused by variants affecting the gene represented in this entry. |
| 125595 | OMIM | Dermatopathia pigmentosa reticularis (DPR) | A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. The disease is caused by variants affecting the gene represented in this entry. |
| 601001 | OMIM | Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) | A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. The disease is caused by variants affecting the gene represented in this entry. |