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,

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

OMIM:

MIM:242100 - ichthyosis, congenital, autosomal recessive 2; arci2

MIM:242100 - ichthyosis, congenital, autosomal recessive 2; arci2

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

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

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