Term Name: | 46,XY sex reversal 3 |
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Synonyms: | 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure, 46,XY sex reversal, partial or complete, NR5A1-related, disorder of sex development, 46,XY, NR5A1-related, sex reversal, XY, with or without adrenal failure, SRXY3 |
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. |
Ontology: | Human Disease [DOID:0111772] ( DOID:0111772 ) |