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Namespace Prefixes

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rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50940112

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n4:ECO_0007645

owl:annotatedProperty

n4:IAO_0000115

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n4:DOID_0070316

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A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/24057292 url:https://www.ncbi.nlm.nih.gov/pubmed/24259409