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loading...| Preferred Name |
Vohwinkel syndrome |
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| Synonyms |
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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 GJB2 on chromosome 13q12.11. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111339 |
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| 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 GJB2 on chromosome 13q12.11. |
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| label |
Vohwinkel syndrome |
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| prefixIRI |
DOID:0111339 |
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| prefLabel |
Vohwinkel syndrome |
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| subClassOf |
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