This HTML5 document contains 16 embedded RDF statements represented using HTML+Microdata notation.

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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_0080284

rdf:type

owl:Class

rdfs:subClassOf

_:vb50940685 n2:DOID_0112202 n2:DOID_0050736

rdfs:label

developmental and epileptic encephalopathy 57

wdrs:describedby

n6:doid.owl

obo:id

DOID:0080284

obo:hasDbXref

OMIM:617771

obo:hasExactSynonym

early infantile epileptic encephalopathy 57 DEE57

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

Subject Item

_:vb50940685

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

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n6:doid.owl