Preferred Name |
Bart-Pumphrey syndrome |
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Synonyms |
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Definitions |
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050658 |
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definition |
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. |
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imported from | ||
label |
Bart-Pumphrey syndrome |
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prefixIRI |
DOID:0050658 |
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prefLabel |
Bart-Pumphrey syndrome |
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subClassOf |
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