loading...| Preferred Name |
Vohwinkel syndrome |
|
| 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 |
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| 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 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111339 |
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| 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 |
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| subClassOf |