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Namespace Prefixes

PrefixIRI
n5https://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_0080416
rdf:type
owl:Class
rdfs:subClassOf
_:vb50940904 n2:DOID_0112202 n2:DOID_0050736
rdfs:label
developmental and epileptic encephalopathy 32
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080416
obo:hasDbXref
OMIM:616366
obo:hasExactSynonym
early infantile epileptic encephalopathy 32 DEE32
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13.
Subject Item
_:vb50940904
rdf:type
owl:Restriction
owl:onProperty
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owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n5:doid.owl