| Term Name: | autosomal dominant keratitis-ichthyosis-deafness syndrome |
|---|---|
| Synonyms: | autosomal dominant KID syndrome |
| 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. |
| Ontology: | Human Disease [DOID:0060871] ( DOID:0060871 ) |