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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0112129
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050590 n2:DOID_0050737 _:vb50946138 _:vb50946139
rdfs:label
severe congenital neutropenia 7
wdrs:describedby
n5:doid.owl
obo:id
DOID:0112129
obo:hasDbXref
ORDO:420702 OMIM:617014
obo:hasExactSynonym
SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.
Subject Item
_:vb50946138
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50946139
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n5:doid.owl