| Disease ID | Source | Name | Description |
| 124500 | OMIM | Vohwinkel syndrome (VOWNKL) | An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. The disease is caused by variants affecting the gene represented in this entry. |
| 220290 | OMIM | Deafness, autosomal recessive, 1A (DFNB1A) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 148210 | OMIM | Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) | An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. The disease is caused by variants affecting the gene represented in this entry. |
| 601544 | OMIM | Deafness, autosomal dominant, 3A (DFNA3A) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 149200 | OMIM | Bart-Pumphrey syndrome (BAPS) | An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. The disease is caused by variants affecting the gene represented in this entry. |
| 602540 | OMIM | Ichthyosis hystrix-like with deafness syndrome (HID syndrome) | An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. The disease is caused by variants affecting the gene represented in this entry. |
| 148350 | OMIM | Keratoderma, palmoplantar, with deafness (PPKDFN) | An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. The disease is caused by variants affecting the gene represented in this entry. |