This HTML5 document contains 21 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/
n3	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

n3:DOID_0080985

rdf:type

owl:Class

rdfs:subClassOf

_:vb50941967 n3:DOID_0080012 _:vb50941968 n3:DOID_0060309

rdfs:label

syndromic X-linked intellectual disorder Lujan-Fryns-type

wdrs:describedby

n7:doid.owl

obo:id

DOID:0080985

obo:hasDbXref

GARD:3307 ORDO:776 OMIM:309520

obo:hasOBONamespace

disease_ontology

n3:IAO_0000115

A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.

Subject Item

_:vb50941967

rdf:type

owl:Restriction

owl:onProperty

n3:IDO_0000664

owl:someValuesFrom

n3:GENO_0000149

wdrs:describedby

n7:doid.owl

Subject Item

_:vb50941968

rdf:type

owl:Restriction

owl:onProperty

n3:RO_0002200

owl:someValuesFrom

n3:HP_0001999

wdrs:describedby

n7:doid.owl