This HTML5 document contains 41 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n6https://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#
n7http://purl.obolibrary.org/obo/doid#
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_0060409
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_225 n2:DOID_0050736 n2:DOID_0060388 _:vb50938799 _:vb50938794
rdfs:label
NFIA-related disorder
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060409
obo:created_by
elvira
obo:creation_date
2015-09-28T17:12:14Z
obo:hasDbXref
ICD10CM:Q93.5 OMIM:613735 ORDO:401986
obo:hasExactSynonym
chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome brain malformations with or without urinary tract defects
obo:hasOBONamespace
disease_ontology
obo:inSubset
n7:DO_rare_slim
n2:IAO_0000115
A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
Subject Item
_:vb50938794
rdf:type
owl:Class
owl:intersectionOf
_:vb50938798
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938795
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:SO_0000159
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938796
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:SO_0000340
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938797
rdf:first
_:vb50938796
rdf:rest
rdf:nil
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938798
rdf:first
_:vb50938795
rdf:rest
_:vb50938797
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938799
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n6:doid.owl