SPARQL | HTML Microdata document
This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.
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Namespace Prefixes
Prefix IRI
n3 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5 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 n5:DOID_0060802
rdf:type
owl:Class
rdfs:subClassOf
_:vb50939428
n5:DOID_0080012
n5:DOID_0060309
rdfs:label
syndromic X-linked intellectual disability Snyder type
wdrs:describedby
n3:doid.owl
obo:id
DOID:0060802
obo:hasDbXref
ICD10CM:Q87.8
OMIM:309583
ORDO:3063
GARD:5615
obo:hasExactSynonym
SRS
mental retardation, X-linked, Snyder-Robinson type
Snyder-Robinson mental retardation syndrome
spermine synthase deficiency
Snyder-Robinson syndrome
obo:hasOBONamespace
disease_ontology
n5:IAO_0000115
A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.
Subject Item _:vb50939428
rdf:type
owl:Restriction
owl:onProperty
n5:IDO_0000664
owl:someValuesFrom
n5:GENO_0000149
wdrs:describedby
n3:doid.owl