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Namespace Prefixes

PrefixIRI
n7https://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_0112212
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0112202 _:vb50946296 n2:DOID_0050737
rdfs:label
developmental and epileptic encephalopathy 76
wdrs:describedby
n7:doid.owl
obo:id
DOID:0112212
obo:hasDbXref
OMIM:618468
obo:hasExactSynonym
early infantile epileptic encephalopathy 76 DECAM developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination DEE76
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.
Subject Item
_:vb50946296
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl