Term Name: Bart-Pumphrey syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome