autosomal recessive congenital ichthyosis 9

Summary

DOID:0060718 - autosomal recessive congenital ichthyosis 9

Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.

Synonyms: ARCI9,

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014010 - autosomal recessive congenital ichthyosis 9

MONDO:0014010 - autosomal recessive congenital ichthyosis 9

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)