http://purl.uniprot.org/diseases/3445 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis."xsd:string |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1274 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D028361 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3553349 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN125024 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614650 |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2004/02/skos/core#prefLabel | "Coenzyme Q10 deficiency, primary, 6"xsd:string |
http://purl.uniprot.org/diseases/3445 | http://purl.uniprot.org/core/mnemonic | "COQ10D6"xsd:string |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2004/02/skos/core#altLabel | "SRNS with sensorineural deafness"xsd:string |
http://purl.uniprot.org/diseases/3445 | http://www.w3.org/2004/02/skos/core#altLabel | "Steroid-resistant nephrotic syndrome with sensorineural deafness"xsd:string |
http://purl.uniprot.org/uniprot/#_69B57956B98231FF_up.disease_45F8D6448816279A | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3445 |
http://purl.uniprot.org/uniprot/Q9Y2Z9#SIP7D4B953936411456 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3445 |
http://purl.uniprot.org/annotation/VAR_068216 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3445 |
http://purl.uniprot.org/annotation/VAR_068218 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3445 |
http://purl.uniprot.org/annotation/VAR_078122 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3445 |