http://purl.uniprot.org/diseases/806 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts."xsd:string |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/983 |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1186 |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/606966 |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052177 |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1847013 |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2004/02/skos/core#prefLabel | "Nephronophthisis 4"xsd:string |
http://purl.uniprot.org/diseases/806 | http://purl.uniprot.org/core/mnemonic | "NPHP4"xsd:string |
http://purl.uniprot.org/diseases/806 | http://www.w3.org/2004/02/skos/core#altLabel | "Juvenile nephronophthisis 4"xsd:string |
http://purl.uniprot.org/uniprot/O75161#SIP1F1DCEBD80DF4192 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_015186 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_015214 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022529 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022530 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022534 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022535 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022538 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022539 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022540 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022543 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022544 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022545 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022547 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |
http://purl.uniprot.org/annotation/VAR_022548 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/806 |