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http://purl.uniprot.org/diseases/2898http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#comment"A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent."xsd:string
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/983
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/1186
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/613550
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D052177
http://purl.uniprot.org/diseases/2898http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C3150796
http://purl.uniprot.org/diseases/2898http://www.w3.org/2004/02/skos/core#prefLabel"Nephronophthisis 11"xsd:string
http://purl.uniprot.org/diseases/2898http://purl.uniprot.org/core/mnemonic"NPHP11"xsd:string
http://purl.uniprot.org/uniprot/Q5HYA8#SIPD3BADD87AB7CE056http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/2898
http://purl.uniprot.org/annotation/VAR_062319http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2898
http://purl.uniprot.org/annotation/VAR_064185http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2898
http://purl.uniprot.org/annotation/VAR_064186http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2898
http://purl.uniprot.org/annotation/VAR_064187http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/2898
http://purl.uniprot.org/uniprot/#_EB018E86D1927040_up.disease_269665A38EFAC554http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/2898