FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term 46,XX sex reversal 5 ID (Ontology) DOID:0080943 (Human Disease)
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.
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 46,XX sex reversal 5       1
 for disease ribbon | 46,XX sex reversal 5       1
 model of | 46,XX sex reversal 5       1
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autosomal genetic disease
 |__autosomal dominant disease__
gonadal dysgenesis              |
 |__46,XX sex reversal__________|
                                46,XX sex reversal 5  1 rec.
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Is a autosomal dominant disease
46,XX sex reversal
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MIM:618901