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Namespace Prefixes

Prefix	IRI
n6	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_0090133

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0090131

rdfs:label

complex cortical dysplasia with other brain malformations 2

wdrs:describedby

n6:doid.owl

obo:id

DOID:0090133

obo:hasDbXref

OMIM:615282

obo:hasExactSynonym

CDCBM2

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 5C (KIF5C) gene on chromosome 2q23.