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Namespace Prefixes

PrefixIRI
n7https://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_0060819
rdf:type
owl:Class
rdfs:subClassOf
_:vb50939451 n3:DOID_0060309
rdfs:label
syndromic X-linked intellectual disability Chudley-Schwartz type
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060819
obo:hasDbXref
OMIM:300861
obo:hasExactSynonym
mental retardation, X-linked, syndromic, Chudley-Schwartz type MRXSCS X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
Subject Item
_:vb50939451
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
n3:SYMP_0000363
wdrs:describedby
n7:doid.owl