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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
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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

_:vb50942319

rdf:type

owl:Axiom

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n3:doid.owl

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n5:ECO_0007646 n5:ECO_0007645 n5:ECO_0007636

owl:annotatedProperty

n5:IAO_0000115

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n5:DOID_0090133

owl:annotatedTarget

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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.omim.org/entry/615282 url:https://www.ncbi.nlm.nih.gov/pubmed/29048727