SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item _:vb50945248
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n3:doid.owl
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n6:ECO_0007645
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A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/10484776
url:https://www.ncbi.nlm.nih.gov/books/NBK2692/