OBO ID: DOID:0111339
Term Name: Vohwinkel syndrome Search Ontology:
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 )
OTHER Vohwinkel syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB2 Vohwinkel syndrome 124500
GJB6 Vohwinkel syndrome 124500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None