SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
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_0112223
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737
_:vb50946318
n2:DOID_0112202
rdfs:label
developmental and epileptic encephalopathy 89
wdrs:describedby
n7:doid.owl
obo:id
DOID:0112223
obo:hasDbXref
OMIM:619124
obo:hasExactSynonym
DEE89
early infantile epileptic encephalopathy 89
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in GAD1 on chromosome 2q31.1.
Subject Item _:vb50946318
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl