Bart-Pumphrey syndrome

Term ID

DOID:0050658

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. https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome

References

• OMIM:149200

Ontology

Human Disease   ( DOID:0050658 )