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Disease Ontology Browser
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 GJB2 on chromosome 13q12.11.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory