autosomal dominant keratitis-ichthyosis-deafness syndrome

Term ID

DOID:0060871

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. (3)

References

• ICD10CM:Q80.8
• OMIM:148210
• ORDO:477

Ontology

Human Disease   ( DOID:0060871 )