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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#
n8http://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_0060428
rdf:type
owl:Class
rdfs:subClassOf
_:vb50938823 n2:DOID_225 n2:DOID_0060388
rdfs:label
SATB2-associated syndrome
wdrs:describedby
n5:doid.owl
obo:id
DOID:0060428
obo:created_by
elvira
obo:creation_date
2015-10-01T15:37:11Z
obo:hasDbXref
ICD10CM:Q93.5 OMIM:612313 ORDO:251019
obo:hasExactSynonym
monosomy 2q32-q33 Glass syndrome 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome monosomy 2q32q33 chromosome 2q32-q33 deletion syndrome monosomy 2q32
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n2:IAO_0000115
A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
Subject Item
_:vb50938823
rdf:type
owl:Class
owl:intersectionOf
_:vb50938827
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50938824
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:SO_0000159
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50938825
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:SO_0000340
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50938826
rdf:first
_:vb50938825
rdf:rest
rdf:nil
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50938827
rdf:first
_:vb50938824
rdf:rest
_:vb50938826
wdrs:describedby
n5:doid.owl