| Disease ID | Source | Name | Description |
| 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. |
| 245660 | OMIM | Laryngoonychocutaneous syndrome (LOCS) | Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. The disease is caused by variants affecting the gene represented in this entry. |