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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_0080984
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060309 n2:DOID_0080012 _:vb50941965
rdfs:label
X-linked intellectual developmental disorder 109
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080984
obo:hasDbXref
OMIM:309548 GARD:2378 ORDO:100973
obo:hasExactSynonym
fragile site on chromosome Xq28 Fragile XE syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
Subject Item
_:vb50941965
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n5:doid.owl