This HTML5 document contains 23 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_0050466

rdf:type

owl:Class

rdfs:subClassOf

_:vb50936878 n2:DOID_0050736 n2:DOID_225

rdfs:label

Loeys-Dietz syndrome

rdfs:comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:0050466

obo:hasDbXref

SNOMEDCT_US_2021_09_01:446263001 UMLS_CUI:C1836635 GARD:10788 ORDO:60030 NCI:C75006 MESH:D055947 UMLS_CUI:C2697932

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:DO_rare_slim n6:NCIthesaurus

n2:IAO_0000115

A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.

Subject Item

_:vb50936878

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n8:doid.owl