This HTML5 document contains 20 embedded RDF statements represented using HTML+Microdata notation.

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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_0111543

rdf:type

owl:Class

rdfs:subClassOf

_:vb50945019 _:vb50945020 n2:DOID_225 n2:DOID_0050736

rdfs:label

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

wdrs:describedby

n7:doid.owl

obo:id

DOID:0111543

obo:hasDbXref

OMIM:175050

obo:hasExactSynonym

JP-HHT

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2.

Subject Item

_:vb50945019

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl

Subject Item

_:vb50945020

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002488

owl:someValuesFrom

n2:HP_0011462

wdrs:describedby

n7:doid.owl