SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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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_0090134
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0090131
rdfs:label
complex cortical dysplasia with other brain malformations 3
wdrs:describedby
n6:doid.owl
obo:id
DOID:0090134
obo:hasDbXref
OMIM:615411
obo:hasExactSynonym
CDCBM3
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.