autosomal dominant keratitis-ichthyosis-deafness syndrome

Summary

DOID:0060871 - autosomal dominant keratitis-ichthyosis-deafness syndrome

Disease Ontology Definition:A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q.

Synonyms: autosomal dominant KID syndrome,

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

: gjb2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007850 - autosomal dominant keratitis-ichthyosis-hearing loss syndrome

MONDO:0007850 - autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)