SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
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 n2:DOID_0111826
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050735
_:vb50945550
n2:DOID_225
rdfs:label
Abruzzo-Erickson syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111826
obo:hasDbXref
SNOMEDCT_US_2021_09_01:718574003
GARD:360
OMIM:302905
MESH:C535559
UMLS_CUI:C1844862
ORDO:921
obo:hasExactSynonym
cleft palate-coloboma-deafness syndrome
CHARGE-like syndrome, X-linked
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1.
Subject Item _:vb50945550
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000936
wdrs:describedby
n7:doid.owl