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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0060823

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0060309

rdfs:label

syndromic X-linked intellectual disability 94

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060823

obo:hasDbXref

ORDO:364028 OMIM:300699 ICD10CM:F72

obo:hasExactSynonym

syndromic X-linked mental retardation Wu type syndromic X-linked intellectual disability due to GRIA3 anomalies mental retardation, X-linked 94 MRXS29 syndromic X-linked mental retardation 29 MRX94

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.