SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n4 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#
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_0111526
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_1923
_:vb50944986
n2:DOID_0050736
rdfs:label
Mullerian aplasia and hyperandrogenism
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111526
obo:hasDbXref
MESH:C567186
ORDO:247768
OMIM:158330
NCI:C120376
UMLS_CUI:C2675014
obo:hasExactSynonym
WNT4 deficiency
Mullerian duct failure and hyperandrogenism
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12.
Subject Item _:vb50944986
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n4:doid.owl