Search Ontology:
Human Disease
Vohwinkel syndrome
- Term ID
- DOID:0111339
- Synonyms
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- 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
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- MESH:C536457
- MIM:124500
- ORDO:3092
- ORDO:494
- SNOMEDCT_US_2023_03_01:24559001
- UMLS_CUI:C0265964
- Ontology
- Human Disease ( DOID:0111339 )
- is a type of
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Genes Involved
Zebrafish Models