Vohwinkel syndrome

Preferred Label : Vohwinkel syndrome;

Symbol : VOWNKL;

CISMeF acronym : KHM; VOWNKL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; KHM; Keratoderma hereditarium mutilans; Mutilating keratoderma;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0012);

Prefixed ID : #124500;

Details

Origin ID

124500;

UMLS CUI

C0265964;

Automatic exact mappings (from CISMeF team)
- Central Khmer Language [NCIt concept]
- Connexin palmoplantar keratoderma with sensorineural deafness [ICD-11 More detail]
- Khmer language (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Keratoderma hereditarium mutilans [ORDO Disease]
- Mutilating keratoderma (disorder) [SNOMED CT concept]
- Vohwinkel syndrome [DO Concept]
- Vohwinkel syndrome [MeSH concept]
- mutilating keratoderma [SNOMED Notion]
- vohwinkel syndrome [MeSH Supplementary Concept]
DO Cross reference
- Vohwinkel syndrome [DO Concept]
False automatic mappings
- Cambodia [NCIt concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Amniotic constriction ring [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Childhood onset [HPO term]
- Congenital ichthyosis [HPO term]
- Honeycomb palmoplantar hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Knuckle pad [HPO term]
Not associated HPO term(s)
- Hearing impairment [HPO term]
ORDO concept(s)
- Keratoderma hereditarium mutilans [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Keratoderma hereditarium mutilans [ORDO Disease]
- Mutilating keratoderma (disorder) [SNOMED CT concept]
- Vohwinkel syndrome [MeSH concept]
- Vohwinkel syndrome [DO Concept]
- mutilating keratoderma [SNOMED Notion]
- vohwinkel syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients