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Namespace Prefixes

PrefixIRI
n6https://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_0070265
rdf:type
owl:Class
rdfs:subClassOf
_:vb50940031 n2:DOID_0080009 _:vb50940032 n2:DOID_0050571
rdfs:label
congenital disorder of glycosylation type IIm
wdrs:describedby
n6:doid.owl
obo:id
DOID:0070265
obo:hasAlternativeId
DOID:0080469
obo:hasDbXref
ORDO:356961 GARD:12403 OMIM:300896
obo:hasExactSynonym
Congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 SLC35A2-CDG epileptic encephalopathy, early infantile, 22 congenital disorder of glycosylation type 2m
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
Subject Item
_:vb50940031
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000146
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50940032
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n6:doid.owl