autosomal recessive congenital ichthyosis 4A

Summary

DOID:0060712 - autosomal recessive congenital ichthyosis 4A

Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

Synonyms: ARCI4A, ichthyosis congenita IIB, ICR2B, lamellar ichthyosis 2

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:0011026 - autosomal recessive congenital ichthyosis 4A

MONDO:0011026 - autosomal recessive congenital ichthyosis 4A

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)