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Metadata
ID	DOID:0080943
Name	46,XX sex reversal 5
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. https://pubmed.ncbi.nlm.nih.gov/29478779/
Xrefs	MIM:618901
Parent Relationships	is_a 46,XX sex reversal is_a autosomal dominant disease