http://purl.uniprot.org/diseases/4735 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients."xsd:string |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/124480 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D003638 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D009264 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D014071 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2675730 |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2004/02/skos/core#prefLabel | "Deafness, congenital, with onychodystrophy, autosomal dominant"xsd:string |
http://purl.uniprot.org/diseases/4735 | http://purl.uniprot.org/core/mnemonic | "DDOD"xsd:string |
http://purl.uniprot.org/diseases/4735 | http://www.w3.org/2004/02/skos/core#altLabel | "DDOD syndrome"xsd:string |
http://purl.uniprot.org/uniprot/P21281#SIP931239EC2547D5BF | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4735 |
http://purl.uniprot.org/uniprot/#_0D37EFCC4B096A59_up.disease_3689704C438030B3 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4735 |