This HTML5 document contains 27 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
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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_0111765

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050735 _:vb50945413 n2:DOID_4079

rdfs:label

X-linked cardiac valvular dysplasia

wdrs:describedby

n7:doid.owl

obo:id

DOID:0111765

obo:hasDbXref

MESH:C536197 OMIM:314400 UMLS_CUI:C0268341 SNOMEDCT_US_2021_09_01:67202007 NCI:C141423 ORDO:555877

obo:hasExactSynonym

FLNA-related valvular dystrophy CVD1 Dystrophie valvulaire associee a FLNA Filamin A-related X-linked myxomatous valvular dysplasia EDS 5 XMVD FLNA-related X-linked myxomatous valvular dysplasia Ehlers-Danlos syndrome, type 5

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28.

Subject Item

_:vb50945413

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000936

wdrs:describedby

n7:doid.owl