This HTML5 document contains 28 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n8	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#
n6	http://purl.obolibrary.org/obo/doid#
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_14261

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 n2:DOID_0080009 _:vb50949515

rdfs:label

fragile X syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:14261

obo:hasDbXref

ICD9CM:759.83 MESH:D005600 ORDO:908 OMIM:300624 GARD:6464 ICD10CM:Q99.2 SNOMEDCT_US_2021_09_01:390007001 NCI:C84717 UMLS_CUI:C0016667

obo:hasExactSynonym

MARKER X SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME MARTIN-BELL SYNDROME

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:NCIthesaurus n6:DO_FlyBase_slim

n2:IAO_0000115

A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.

Subject Item

_:vb50949515

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000146

wdrs:describedby

n8:doid.owl