Term Name:	46,XX sex reversal 5
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0080943]   ( DOID:0080943 )