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 )

Relationships
is a type of: autosomal recessive congenital ichthyosis