Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/124500 http://purl.bioontology.org/ontology/OMIM/124500
Preferred Name	VOHWINKEL SYNDROME
Synonyms	DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES VOWNKL MUTILATING KERATODERMA KERATODERMA HEREDITARIUM MUTILANS KHM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES VOWNKL MUTILATING KERATODERMA KERATODERMA HEREDITARIUM MUTILANS KHM
prefLabel	VOHWINKEL SYNDROME
Gene Symbol	GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A See more See less
Scope Statement	Allelic to deafness, autosomal recessive 1, (220290), deafness, autosomal dominant 3, (601544), keratoderma, palmoplantar, with deafness, (148350), keratitis-ichthyosis-deafness syndrome, (148210), hystrix-like ichthyosis with deafness, (602540), Bart-Pumphrey syndrome, (149200) [MISCELLANEOUS] Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0012) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018719 http://purl.bioontology.org/ontology/OMIM/MTHU005663 http://purl.bioontology.org/ontology/OMIM/MTHU018718 http://purl.bioontology.org/ontology/OMIM/MTHU018721 http://purl.bioontology.org/ontology/OMIM/MTHU006290 http://purl.bioontology.org/ontology/OMIM/MTHU018717 http://purl.bioontology.org/ontology/OMIM/MTHU018716 http://purl.bioontology.org/ontology/OMIM/MTHU018720 See more See less
tui	T019
Gene Locus	13q11-q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	124500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0265964
OMIM Entry Type	3
OMIM MimType Value	pound

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