RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/diseases/1296http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1296http://www.w3.org/2000/01/rdf-schema#comment"A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients."xsd:string
http://purl.uniprot.org/diseases/1296http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/1296http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/608389
http://purl.uniprot.org/diseases/1296http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D003638
http://purl.uniprot.org/diseases/1296http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C1842124
http://purl.uniprot.org/diseases/1296http://www.w3.org/2004/02/skos/core#prefLabel"Branchiootic syndrome 3"xsd:string
http://purl.uniprot.org/diseases/1296http://purl.uniprot.org/core/mnemonic"BOS3"xsd:string
http://purl.uniprot.org/diseases/1296http://www.w3.org/2004/02/skos/core#altLabel"BO syndrome 3"xsd:string
http://purl.uniprot.org/diseases/1296http://www.w3.org/2004/02/skos/core#altLabel"Branchio-otic dysplasia 3"xsd:string
http://purl.uniprot.org/diseases/1296http://www.w3.org/2004/02/skos/core#altLabel"Branchio-otic syndrome 3"xsd:string
http://purl.uniprot.org/uniprot/Q15475#SIPB3D7853F0AF02BBEhttp://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_031024http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_031025http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064948http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064949http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064950http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064951http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064952http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/annotation/VAR_064953http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1296
http://purl.uniprot.org/uniprot/#_0070F1B86A0CD2DD_up.disease_2C6F5CBE57196883http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/1296