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Namespace Prefixes

PrefixIRI
n5https://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_0080556
rdf:type
owl:Class
rdfs:subClassOf
_:vb50941148 _:vb50941149 n3:DOID_0050737 n3:DOID_0050570
rdfs:label
congenital disorder of glycosylation Id
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080556
obo:hasDbXref
GARD:9827 ORDO:79321 OMIM:601110
obo:hasExactSynonym
congenital disorder of glycosylation 1d
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
Subject Item
_:vb50941148
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50941149
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0004019
owl:someValuesFrom
n3:HP_0001197
wdrs:describedby
n5:doid.owl