FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 46,XY sex reversal 4 ID (Ontology) DOID:0111771 (Human Disease)
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 but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p.
Also Known As "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion" ; "chromosome 9p24.3 deletion syndrome" ; "SRXY4"
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chromosomal disease
 |__chromosomal deletion syndrome______
gonadal dysgenesis                     |
 |__46,XY complete gonadal dysgenesis__|
                                       46,XY sex reversal 4
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Is a chromosomal deletion syndrome
46,XY complete gonadal dysgenesis
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Synonyms
  • "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion" EXACT
    "chromosome 9p24.3 deletion syndrome" EXACT
    "SRXY4" EXACT OMO:0003012
Secondary IDs
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MESH:C567887
MIM:154230