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Namespace Prefixes

Prefix	IRI
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n5	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

_:vb50946140

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n5:ECO_0007645

owl:annotatedProperty

n5:IAO_0000115

owl:annotatedSource

n5:DOID_0112129

owl:annotatedTarget

A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/26324699/ url:https://pubmed.ncbi.nlm.nih.gov/24753537/