| Disease ID | Source | Name | Description |
| 617756 | OMIM | Erythrokeratodermia variabilis et progressiva 5 (EKVP5) | A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 158000 | OMIM | Monilethrix (MNLIX) | A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. The disease is caused by variants affecting the gene represented in this entry. |