SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n4 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
obo http://www.geneontology.org/formats/oboInOwl#
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 n2:DOID_0080390
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737
n2:DOID_2590
_:vb50940862
rdfs:label
nephrotic syndrome type 1
wdrs:describedby
n4:doid.owl
obo:id
DOID:0080390
obo:hasDbXref
OMIM:256300
GARD:1500
ORDO:839
NCI:C122795
MEDDRA:10060740
SNOMEDCT_US_2021_09_01:197601003
UMLS_CUI:C0403399
obo:hasExactSynonym
Finnish congenital nephrosis
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Subject Item _:vb50940862
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n4:doid.owl