Term Name: | autosomal recessive congenital ichthyosis 2 |
---|---|
Synonyms: | ARCI2, BROCQ congenital ichthyosiform erythroderma nonbullous form, NCIE1, nonbullous congenital ichthyosiform erythroderma 1 |
Definition: | An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. |
Ontology: | Human Disease [DOID:0060710] ( DOID:0060710 ) |