| Disease ID | Source | Name | Description |
| 217700 | OMIM | Corneal endothelial dystrophy (CHED) | A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. The disease is caused by variants affecting the gene represented in this entry. |
| 613268 | OMIM | Corneal dystrophy, Fuchs endothelial, 4 (FECD4) | A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. The disease is caused by variants affecting the gene represented in this entry. |
| 217400 | OMIM | Corneal dystrophy and perceptive deafness (CDPD) | An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. The disease is caused by variants affecting the gene represented in this entry. |