loading...| Preferred Name |
Vohwinkel syndrome |
| Synonyms |
VOWNKL |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111339 |
| database_cross_reference |
UMLS_CUI:C0265964 MESH:C536457 SNOMEDCT_US_2022_09_01:24559001 ORDO:3092 OMIM:124500 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 |
VOWNKL KHM congenital deafness with keratopachydermia and constrictions fo fingers and toes Mutilating keratoderma plus deafness PPK mutilans and deafness keratoderma hereditarium mutilans mutilating keratoderma of Vohwinkel |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111339 |
| in_subset | |
| label |
Vohwinkel syndrome |
| notation |
DOID:0111339 |
| prefLabel |
Vohwinkel syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/124500 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C536457 | Medical Subject Headings | LOOM |