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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

_:vb50940295

rdf:type

owl:Axiom

wdrs:describedby

n5:doid.owl

dc:type

n3:ECO_0007636

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0080050

owl:annotatedTarget

An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.

obo:hasDbXref

url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507 url:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf url:http://www.ncbi.nlm.nih.gov/omim/602875