| Disease ID | Source | Name | Description |
| 226730 | OMIM | Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) | An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. The disease is caused by variants affecting the gene represented in this entry. |
| 226650 | OMIM | Generalized atrophic benign epidermolysis bullosa (GABEB) | A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. 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. |