| Disease ID | Source | Name | Description |
| 618031 | OMIM | Corneal dystrophy, posterior polymorphous, 4 (PPCD4) | A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. The disease is caused by variants affecting the gene represented in this entry. |
| 608641 | OMIM | Deafness, autosomal dominant, 28 (DFNA28) | A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade. The disease is caused by variants affecting the gene represented in this entry. |
| 616029 | OMIM | Ectodermal dysplasia/short stature syndrome (ECTDS) | An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. The disease is caused by variants affecting the gene represented in this entry. |