http://purl.uniprot.org/diseases/839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers."xsd:string |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1010 |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/601369 |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1832425 |
http://purl.uniprot.org/diseases/839 | http://www.w3.org/2004/02/skos/core#prefLabel | "Deafness, autosomal dominant, 9"xsd:string |
http://purl.uniprot.org/diseases/839 | http://purl.uniprot.org/core/mnemonic | "DFNA9"xsd:string |
http://purl.uniprot.org/uniprot/O43405#SIP2D184C3CA269D334 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_008532 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_008533 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_008534 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_008535 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_008536 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_017175 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_070034 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072249 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072250 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072251 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072252 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072253 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_072254 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/annotation/VAR_079876 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/839 |
http://purl.uniprot.org/uniprot/#_38C073EAF43E232E_up.disease_600C4A02E17E17F7 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/839 |