This HTML5 document contains 15 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	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_0080598

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50941272 n2:DOID_0080597

rdfs:label

Kleefstra syndrome 2

wdrs:describedby

n5:doid.owl

obo:id

DOID:0080598

obo:hasDbXref

OMIM:617768 ORDO:261652

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.

Subject Item

_:vb50941272

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n5:doid.owl