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Namespace Prefixes

Prefix	IRI
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#
nci	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

nci:C75337

rdf:type

owl:Class

rdfs:label

FBN1 wt Allele

rdfs:subClassOf

nci:C75336 _:vb671988 _:vb671989

nci:P100

134797

nci:P102

X63556

nci:P106

Gene or Genome

nci:P108

FBN1 wt Allele

nci:P207

C2700045

nci:P321

2200

nci:P366

FBN1_wt_Allele

nci:P369

HGNC:3603

nci:P90

<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>FBN1 wt Allele</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>LIP2</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>WMS</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>Fibrillin 1 wt Allele</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>FBN</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>SGS</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>OCTD</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>MASS</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>Human FBN1 wild-type allele is located in the vicinity of 15q21.1 and is approximately 237 kb in length. This allele, which encodes fibrillin-1 protein, plays a role in modulation of connective tissue structure. Mutations in the gene are associated with a number of congenital defects.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>

nci:P98

Mutations in the FBN1 gene are involved in Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. (Entrez Gene)

nci:code

C75337

Subject Item

_:vb671988

rdf:type

owl:Restriction

owl:onProperty

nci:R40

owl:someValuesFrom

nci:C26502

Subject Item

_:vb671989

rdf:type

owl:Restriction

owl:onProperty

nci:R41

owl:someValuesFrom

nci:C14225