WormBase Tree Display for DO_term: DOID:0111772
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| DOID:0111772 | Name | 46,XY sex reversal 3 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. | ||||
| Synonym | Exact | 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure | |||
| 46,XY sex reversal, partial or complete, NR5A1-related | |||||
| SRXY3 | |||||
| disorder of sex development, 46,XY, NR5A1-related | |||||
| sex reversal, XY, with or without adrenal failure | |||||
| Parent | Is_a | DOID:14448 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 612965 | |
| Attribute_of | Gene_by_orthology | WBGene00003623 |
