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| Term | Vohwinkel syndrome | ID (Ontology) | DOID:0111339 (Human Disease) |
| 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. | ||
| Also Known As | "congenital deafness with keratopachydermia and constrictions fo fingers and toes" ; "keratoderma hereditarium mutilans" ; "KHM" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Vohwinkel syndrome |
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autosomal dominant disease syndrome |
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MESH:C536457 MIM:124500 ORDO:3092 ORDO:494 SNOMEDCT_US_2023_03_01:24559001 UMLS_CUI:C0265964 |
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