46,Xx Sex Reversal 5
Disease ID: disease_node_17164
Connections displayed (default: 10).
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| Dbxref | MIM:618901 |
|---|---|
| Subclassof | DOID_0111760, DOID_0050736 |
| Data Source | DOID |
| Doid Label | 46,XX sex reversal 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17164 |
| Doid Id | DOID_0080943 |
| Label | 46,Xx Sex Reversal 5 |
- Outgoing r'ship
SUBCLASS_OFto/from 46, Xx Testicular Disorders Of Sex Development(ID:disease_node_12559) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)