WormBase Tree Display for DO_term: DOID:0080943
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| DOID:0080943 | Name | 46,XX sex reversal 5 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0111760 | |||||
| DB_info | Database | OMIM | disease | 618901 | |
| Attribute_of | Gene_by_orthology | WBGene00006790 |
