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Namespace Prefixes

PrefixIRI
n7https://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_0112151
rdf:type
owl:Class
rdfs:subClassOf
_:vb50946188 _:vb50946189 n2:DOID_225 n2:DOID_0050735
rdfs:label
corpus callosum agenesis-abnormal genitalia syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0112151
obo:hasDbXref
GARD:4528 ORDO:2508 OMIM:300004
obo:hasExactSynonym
Proud syndrome Proud-Levine-Carpenter syndrome corpus callosum agenesis with abnormal genitalia ACC with abnormal genitalia microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
Subject Item
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owl:onProperty
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owl:someValuesFrom
n2:GENO_0000936
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50946189
rdf:type
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owl:onProperty
n2:RO_0002200
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n2:HP_0001257
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