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Entry | Name | Description | Category | Pathway | Gene |
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H02449 | Autosomal dominant lamellar ichthyosis | Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734] ... | Congenital malformation | ASPRV1 [HSA:151516] [KO:K24552] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |