OBO ID: DOID:0111339 |
Term Name: | Vohwinkel syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111339 ) |
OTHER Vohwinkel syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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