| http://purl.uniprot.org/diseases/804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts."xsd:string |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/983 |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1186 |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/602088 |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052177 |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1865872 |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2004/02/skos/core#prefLabel | "Nephronophthisis 2"xsd:string |
| http://purl.uniprot.org/diseases/804 | http://purl.uniprot.org/core/mnemonic | "NPHP2"xsd:string |
| http://purl.uniprot.org/diseases/804 | http://www.w3.org/2004/02/skos/core#altLabel | "Infantile nephronophthisis"xsd:string |
| http://purl.uniprot.org/uniprot/Q9Y283#SIPDFB20FD60AB0DAA0 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/804 |
| http://purl.uniprot.org/annotation/VAR_022822 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/804 |
| http://purl.uniprot.org/annotation/VAR_022823 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/804 |
| http://purl.uniprot.org/uniprot/#_D6BF828EC1EEB4BD_up.disease_3DA9AC1A4E26115F | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/804 |