Bart-Pumphrey syndrome https://github.com/monarch-initiative/mondo/issues/10033 https://www.malacards.org/card/bart_pumphrey_syndrome Bart-Pumphrey syndrome OMIM:149200 MEDGEN:82727 Orphanet:2698 knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome SCTID:1271009 Any diffuse palmoplantar keratoderma caused by a variation in the GJB2 gene, characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness. MONDO:0007866 UMLS:C0266004 knuckle pads, leuconychia and sensorineural deafness DOID:0050658 ICD9:759.89 knuckle pads, leukonychia, and sensorineural deafness MESH:C537210 GARD:0003125 knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome diffuse palmoplantar keratoderma GJB2-related disorder