About: 46,XX sex reversal 5

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease 46,XX sex reversal nodeID://b50941906
label	46,XX sex reversal 5
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080943
database_cross_reference	OMIM:618901
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941907

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