Preferred Name |
Vohwinkel syndrome |
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Synonyms |
PPK mutilans and deafness VOWNKL mutilating keratoderma of Vohwinkel KHM keratoderma hereditarium mutilans congenital deafness with keratopachydermia and constrictions fo fingers and toes Mutilating keratoderma plus deafness |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/DOID_0111339 |
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alternative label |
PPK mutilans and deafness VOWNKL mutilating keratoderma of Vohwinkel KHM keratoderma hereditarium mutilans congenital deafness with keratopachydermia and constrictions fo fingers and toes Mutilating keratoderma plus deafness |
|
database_cross_reference |
MESH:C536457 OMIM:124500 UMLS_CUI:C0265964 SNOMEDCT_US_2023_03_01:24559001 ORDO:3092 ORDO:494 |
|
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. |
|
has exact synonym |
PPK mutilans and deafness VOWNKL mutilating keratoderma of Vohwinkel KHM keratoderma hereditarium mutilans congenital deafness with keratopachydermia and constrictions fo fingers and toes Mutilating keratoderma plus deafness |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111339 |
|
in_subset | ||
label |
Vohwinkel syndrome |
|
notation |
DOID:0111339 |
|
note |
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. |
|
preferred label |
Vohwinkel syndrome |
|
prefLabel |
Vohwinkel syndrome |
|
textual 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. |
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subClassOf |