| Disease ID | Source | Name | Description |
| 127500 | OMIM | Dyschromatosis universalis hereditaria 1 (DUH1) | A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. The disease is caused by variants affecting the gene represented in this entry. |
| 618373 | OMIM | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma (CAPOK) | An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. The disease may be caused by variants affecting the gene represented in this entry. |