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Namespace Prefixes

PrefixIRI
n5https://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#
n8http://purl.obolibrary.org/obo/doid#
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_0060350
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_653 n2:DOID_0050737 _:vb50938688
rdfs:label
adenine phosphoribosyltransferase deficiency
wdrs:describedby
n5:doid.owl
obo:id
DOID:0060350
obo:created_by
elvira
obo:creation_date
2015-07-02T16:06:22Z
obo:hasDbXref
GARD:546 UMLS_CUI:C3665382 OMIM:614723 UMLS_CUI:C0268120 SNOMEDCT_US_2021_09_01:11852004 NCI:C121564 MESH:C538228 GARD:10666
obo:hasExactSynonym
APRT deficiency 2,8-dihydroxyadenine urolithiasis
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
Subject Item
_:vb50938688
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n5:doid.owl