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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,
Echinobase Genes :
MIM:148210 - keratitis-ichthyosis-deafness syndrome, autosomal dominant |
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)