palmoplantar keratoderma-deafness syndrome

Summary

DOID:0111505 - palmoplantar keratoderma-deafness syndrome

Disease Ontology Definition:A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.

Synonyms: PPK-deafness syndrome, keratoderma palmoplantar deafness, palmoplantar hyperkeratosis-deafness syndrome, palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma with deafness, palmoplantar keratoderma-hearing loss syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gjb2

OMIM:

OMIM:148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

OMIM:148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)