Autosomal recessive congenital ichthyosis 5

MONDO:0011485

An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.

Also known as: ARCI5, autosomal recessive congenital ichthyosis 5, autosomal recessive congenital ichthyosis type 5, ichthyosis, congenital, autosomal recessive type 5, LI3, formerly, NNCI, ichthyosis congenita 3, ichthyosis congenita III

3 clinical trials for this condition and its sub-types.

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