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Namespace Prefixes

PrefixIRI
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n3http://purl.obolibrary.org/obo/
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dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50946407
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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n3:DOID_0112268
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A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in NOS1AP on chromosome 1q23.3.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/33523862/