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DOID:0111339 - Vohwinkel syndrome
Disease Ontology 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 the GJB2 gene on chromosome 13q12.11.
Synonyms: mutilating keratoderma of Vohwinkel, Mutilating keratoderma plus deafness, VOWNKL, PPK mutilans and deafness, congenital deafness with keratopachydermia and constrictions fo fingers and toes, keratoderma hereditarium mutilans, KHM
Xenbase Genes
:
gjb2
| MIM:124500 - VOHWINKEL SYNDROME; VOWNKL |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)