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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
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
n2:DOID_0111798
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080012 _:vb50945493 n2:DOID_447
rdfs:label
X-linked nephrolithiasis type I
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111798
obo:hasDbXref
OMIM:310468
obo:hasExactSynonym
X-linked nephrolithiasis with renal failure XRN nephrolithiasis X-linked recessive type 1 nephrolithiasis 1 NPHL1 X-linked recessive urolithiasis type 1
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.23.
Subject Item
_:vb50945493
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n7:doid.owl