Search Ontology:
Human Disease

Vohwinkel syndrome

Term ID
DOID:0111339
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
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. https://www.ncbi.nlm.nih.gov/pubmed/10369869
References
Ontology
Human Disease   ( DOID:0111339 )
Relationships
is a type of
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Genes Involved
Zebrafish Models