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Disease Ontology Browser
Vohwinkel syndrome (DOID:0111339)
Alliance: disease page
Synonyms: congenital deafness with keratopachydermia and constrictions fo fingers and toes; keratoderma hereditarium mutilans; KHM; mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness; PPK mutilans and deafness; VOWNKL
Alt IDs: OMIM:124500, ORDO:3092, ORDO:494, UMLS_CUI:C0265964
Definition: A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss 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
02/18/2020
MGI 6.14
The Jackson Laboratory