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Entry Name Description Category Pathway Gene
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]
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