Term Name: | palmoplantar keratoderma-deafness syndrome |
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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 ) |