| Disease ID | Source | Name | Description |
| 605676 | OMIM | Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) | An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. |
| 607655 | OMIM | Skin fragility-woolly hair syndrome (SFWHS) | An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. The disease is caused by variants affecting the gene represented in this entry. |
| 612908 | OMIM | Keratoderma, palmoplantar, striate 2 (SPPK2) | A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. The disease is caused by variants affecting the gene represented in this entry. |
| 615821 | OMIM | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) | A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. The disease is caused by variants affecting the gene represented in this entry. |
| 607450 | OMIM | Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) | A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by variants affecting the gene represented in this entry. |
| 609638 | OMIM | Epidermolysis bullosa, lethal acantholytic (EBLA) | A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. The disease is caused by variants affecting the gene represented in this entry. |