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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0080419
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0050737 _:vb50940910 n3:DOID_0112202
rdfs:label
developmental and epileptic encephalopathy 50
wdrs:describedby
n7:doid.owl
obo:id
DOID:0080419
obo:hasDbXref
ORDO:448010 GARD:13621 OMIM:616457
obo:hasExactSynonym
early infantile epileptic encephalopathy 50 Carbohydrate deficient glycoprotein syndrome type Iz DEE50 Congenital disorder of glycosylation type 1z CDG syndrome type Iz CDG-Iz
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.
Subject Item
_:vb50940910
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n7:doid.owl