This HTML5 document contains 25 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

Prefix	IRI
n7	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_0112127

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_655 _:vb50946133 n2:DOID_1920 n2:DOID_0080012

rdfs:label

HRPT-related hyperuricemia

wdrs:describedby

n7:doid.owl

obo:id

DOID:0112127

obo:hasDbXref

ORDO:79233 OMIM:300323

obo:hasExactSynonym

hypoxanthine guanine phosphoribosyltransferase deficiency, grade I HPRT deficiency, grade I Kelley-Seegmiller syndrome HPRT partial deficiency HPRT1 partial deficiency HPRT-related gout HPRT-related hyperuricemia hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase partial deficiency

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3.

Subject Item

_:vb50946133

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000149

wdrs:describedby

n7:doid.owl