autosomal recessive congenital ichthyosis 2

Summary

DOID:0060710 - autosomal recessive congenital ichthyosis 2

Disease Ontology 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.

Synonyms: ARCI2, BROCQ congenital ichthyosiform erythroderma nonbullous form, NCIE1, nonbullous congenital ichthyosiform erythroderma 1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tgm1, alox12b, aloxe3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009439 - autosomal recessive congenital ichthyosis 2

MONDO:0009439 - autosomal recessive congenital ichthyosis 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive congenital ichthyosis (is_a)