autosomal recessive congenital ichthyosis 4B

Summary

DOID:0060713 - autosomal recessive congenital ichthyosis 4B

Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

Synonyms: ARCI4B, harlequin ichthyosis, harlequin type ichthyosis congenita, harlequin type ichthyosis fetalis,

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

: abca12

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009443 - autosomal recessive congenital ichthyosis 4B

MONDO:0009443 - autosomal recessive congenital ichthyosis 4B

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)