| Disease ID | Source | Name | Description |
| 146750 | OMIM | Ichthyosis, lamellar, autosomal dominant (ADLI) | An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. The disease is caused by variants affecting the gene represented in this entry. |