Disease

Bart-Pumphrey syndrome

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.
Synonyms
  • KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models