autosomal recessive congenital ichthyosis

Summary

DOID:0060655 - autosomal recessive congenital ichthyosis

Disease Ontology Definition:An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

Synonyms: ARCI, lamellar ichthyosis, non bullous congenital ichthyosiform erythroderma,

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

: cers3, nipal4, st14, tgm1, cyp4f22, alox12b, aloxe3, abca12, pnpla1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017265 - autosomal recessive congenital ichthyosis

MONDO:0017265 - autosomal recessive congenital ichthyosis

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

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

Parent(s): autosomal recessive disease (is_a), ichthyosis (is_a), physical disorder (is_a), skin disease (is_a)