autosomal recessive congenital ichthyosis 5

Summary

DOID:0060714 - autosomal recessive congenital ichthyosis 5

Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.

Synonyms: ARCI5, autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis

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

: cyp4f22

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011485 - autosomal recessive congenital ichthyosis 5

MONDO:0011485 - autosomal recessive congenital ichthyosis 5

MIM:

MIM:604777 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

MIM:604777 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

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)