| http://purl.uniprot.org/diseases/803 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years."xsd:string |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/983 |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1186 |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/256100 |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052177 |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1855681 |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2004/02/skos/core#prefLabel | "Nephronophthisis 1"xsd:string |
| http://purl.uniprot.org/diseases/803 | http://purl.uniprot.org/core/mnemonic | "NPHP1"xsd:string |
| http://purl.uniprot.org/diseases/803 | http://www.w3.org/2004/02/skos/core#altLabel | "Familial juvenile nephronophthisis 1"xsd:string |
| http://purl.uniprot.org/uniprot/O15259#SIP0CAE2422FE8D84D6 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/803 |
| http://purl.uniprot.org/annotation/VAR_012160 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/803 |
| http://purl.uniprot.org/uniprot/#_0A2131882796201F_up.disease_0B9F4944E8513E19 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/803 |