This HTML5 document contains 12 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/
n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
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

_:vb50940248

rdf:type

owl:Axiom

wdrs:describedby

n5:doid.owl

dc:type

n3:ECO_0007636 n3:ECO_0007637 n3:ECO_0007638

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0080028

owl:annotatedTarget

A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

obo:hasDbXref

url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346 url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type