| Metadata | |
|---|---|
| ID | DOID:0111339 |
| Name | Vohwinkel syndrome |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:24559001 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital deafness with keratopachydermia and constrictions fo fingers and toes [EXACT] keratoderma hereditarium mutilans [EXACT] KHM [EXACT] mutilating keratoderma of Vohwinkel [EXACT] Mutilating keratoderma plus deafness [EXACT] PPK mutilans and deafness [EXACT] VOWNKL [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |