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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 the GJB2 gene on chromosome 13q12.11.
Synonyms: keratoderma palmoplantar deafness, palmoplantar hyperkeratosis-deafness syndrome, palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma-hearing loss syndrome, palmoplantar keratoderma with deafness, PPK-deafness syndrome
Xenbase Genes
:
gjb2
Other Model Organisms: Alliance, 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)