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http://purl.uniprot.org/diseases/172http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#comment"An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability."xsd:string
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1007
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/149200
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D006319
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D007645
http://purl.uniprot.org/diseases/172http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C0266004
http://purl.uniprot.org/diseases/172http://www.w3.org/2004/02/skos/core#prefLabel"Bart-Pumphrey syndrome"xsd:string
http://purl.uniprot.org/diseases/172http://purl.uniprot.org/core/mnemonic"BAPS"xsd:string
http://purl.uniprot.org/diseases/172http://www.w3.org/2004/02/skos/core#altLabel"Knuckle pads, leukonychia, and sensorineural deafness"xsd:string
http://purl.uniprot.org/uniprot/P29033#SIP3361520C3AE11F53http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/172
http://purl.uniprot.org/annotation/VAR_032750http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/172
http://purl.uniprot.org/annotation/VAR_032751http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/172
http://purl.uniprot.org/uniprot/#_000E40C8EADFF273_up.disease_1E415A6ACDF3E959http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/172