SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n5 http://linked.opendata.cz/resource/mesh/concept/
rdfs http://www.w3.org/2000/01/rdf-schema#
rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
n4 http://linked.opendata.cz/ontology/mesh/
nci http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item nci:C85232
rdf:type
owl:Class
rdfs:label
Williams Syndrome
rdfs:subClassOf
nci:C28193
nci:C53543
nci:A11
nci:C3101
nci:A8
nci:C99147
nci:C89505
nci:P106
Disease or Syndrome
nci:P108
Williams Syndrome
nci:P207
C0175702
nci:P322
NICHD
nci:P90
<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Williams Syndrome</n0:term-name><n0:term-group>PT</n0:term-group><n0:term-source>NICHD</n0:term-source></n0:ComplexTerm>
<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Williams Syndrome</n0:term-name><n0:term-group>PT</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm>
<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Williams-Beuren Syndrome</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm>
<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>Williams-Beuren Syndrome (WBS)</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm>
nci:P97
<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>
nci:code
C85232
n4:hasConcept
n5:M0028351