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 )

Relationships
is a type of: autosomal dominant disease syndrome