| Disease ID | Source | Name | Description |
| 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. |
| 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. |
| 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. |
| 609352 | OMIM | Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) | A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. The disease is caused by variants affecting the gene represented in this entry. |
| 131960 | OMIM | Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) | A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. The disease is caused by variants affecting the gene represented in this entry. |
| 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. |
| 179850 | OMIM | Dowling-Degos disease 1 (DDD1) | An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. The disease is caused by variants affecting the gene represented in this entry. |