autosomal recessive congenital ichthyosis 1

Summary

DOID:0060656 - autosomal recessive congenital ichthyosis 1

Disease Ontology Definition:An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.

Synonyms: ARCI1, bathing suit 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

: tgm1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009441 - autosomal recessive congenital ichthyosis 1

MONDO:0009441 - autosomal recessive congenital ichthyosis 1

MIM:

MIM:242300 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1

MIM:242300 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1

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)