SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n4 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
dc http://purl.org/dc/elements/1.1/
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 _:vb50945443
rdf:type
owl:Axiom
wdrs:describedby
n7:doid.owl
dc:type
n4:ECO_0007645
owl:annotatedProperty
n4:IAO_0000115
owl:annotatedSource
n4:DOID_0111775
owl:annotatedTarget
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of SOX9 on chromosome 17q24.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/22051515
url:https://www.ncbi.nlm.nih.gov/pubmed/1956279