This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n5https://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_0080562
rdf:type
owl:Class
rdfs:subClassOf
_:vb50941175 _:vb50941176 n2:DOID_0050737 n2:DOID_0050570
rdfs:label
congenital disorder of glycosylation Ij
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080562
obo:hasDbXref
ORDO:86309 GARD:9837 OMIM:608093
obo:hasExactSynonym
Congenital disorder of glycosylation 1j
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
Subject Item
_:vb50941175
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50941176
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n5:doid.owl