autosomal recessive congenital ichthyosis 5
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.
MONDO:0017265
autosomal recessive congenital ichthyosis
is_a
MONDO:0017778
lamellar ichthyosis
is_a
ARCI5
exact
LI3, formerly
related
NNCI
related
autosomal recessive congenital ichthyosis 5
exact
autosomal recessive congenital ichthyosis type 5
exact
ichthyosis congenita 3
related
ichthyosis congenita III
related
ichthyosis lamellar 3
related
ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive
related
ichthyosis, congenital, autosomal recessive 5
related
ichthyosis, congenital, autosomal recessive type 5
exact
ichthyosis, lamellar, 3
related
ichthyosis, lamellar, 3, formerly
related
lamellar ichthyosis, type 3
related
type 3 lamellar ichthyosis
related