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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_14731

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50949738 n2:DOID_225

rdfs:label

Weaver syndrome

rdfs:comment

OMIM mapping confirmed by DO. [LS].

wdrs:describedby

n7:doid.owl

obo:id

DOID:14731

obo:hasDbXref

MESH:C562443 GARD:5545 UMLS_CUI:C0220765 GARD:7878 OMIM:277590

obo:hasExactSynonym

Weaver-Williams syndrome WEAVER-LIKE SYNDROME

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.

Subject Item

_:vb50949738

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl