autosomal recessive congenital ichthyosis 6

Summary

DOID:0060715 - autosomal recessive congenital ichthyosis 6

Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.

Synonyms: ARCI6

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

: nipal4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012847 - autosomal recessive congenital ichthyosis 6

MONDO:0012847 - autosomal recessive congenital ichthyosis 6

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)