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Namespace Prefixes

PrefixIRI
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n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
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
_:vb50940913
rdf:type
owl:Axiom
wdrs:describedby
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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n3:DOID_0080420
owl:annotatedTarget
A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/29466837