This HTML5 document contains 23 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

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_0080559
rdf:type
owl:Class
rdfs:subClassOf
_:vb50941157 _:vb50941158 n2:DOID_0050737 n2:DOID_0050570
rdfs:label
congenital disorder of glycosylation Ig
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080559
obo:hasDbXref
ORDO:79324 OMIM:607143 GARD:9833
obo:hasExactSynonym
ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.
Subject Item
_:vb50941157
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50941158
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n5:doid.owl