| Term Name: | palmoplantar keratoderma-deafness syndrome |
|---|---|
| Synonyms: | keratoderma palmoplantar deafness, palmoplantar hyperkeratosis-deafness syndrome, palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma with deafness, palmoplantar keratoderma-hearing loss syndrome, PPK-deafness syndrome |
| Definition: | A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. |
| Ontology: | Human Disease [DOID:0111505] ( DOID:0111505 ) |