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autosomal recessive congenital ichthyosis 7

Disease Summary
Associated Targets ()

Mondo Description An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.
Mondo Term and Equivalent IDs
MONDO:0014009:  autosomal recessive congenital ichthyosis 7
UMLS:C3554348: