"46,XX sex reversal 5"^^ . . _:vb50941906 . "DOID:0080943"^^ . "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."^^ . "OMIM:618901"^^ . . _:vb50941906 . _:vb50941906 . . . "disease_ontology"^^ . _:vb50941906 . _:vb50941906 .