This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n3https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5http://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
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