palmoplantar keratoderma-deafness syndrome (DOID:0111505)
Alliance: disease page
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
Alt IDs: OMIM:148350, MESH:C536152, ORDO:2202, UMLS_CUI:C1835672
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.