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Namespace Prefixes

Prefix	IRI
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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

_:vb50941907

rdf:type

owl:Axiom

wdrs:describedby

n6:doid.owl

owl:annotatedProperty

n3:IAO_0000115

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n3:DOID_0080943

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A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/29478779/