Term Name: | Bart-Pumphrey syndrome |
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Synonyms: | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
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. |
Ontology: | Human Disease [DOID:0050658] ( DOID:0050658 ) |