| Disease ID | Source | Name | Description |
| 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. |
| 104530 | OMIM | Amelogenesis imperfecta 1A (AI1A) | A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. The disease is caused by variants affecting the gene represented in this entry. |
| 226700 | OMIM | Epidermolysis bullosa, junctional, Herlitz type (H-JEB) | An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. The disease is caused by variants affecting the gene represented in this entry. |