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 10 ID (Ontology) DOID:0111775 (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 that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
Also Known As "chromosome 17q24 deletion syndrome" ; "SRXY10"
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 Genes
 46,XY sex reversal 10       1
 for disease ribbon | 46,XY sex reversal 10       1
 model of | 46,XY sex reversal 10       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
chromosomal disease                    |
 |__chromosomal deletion syndrome______|
gonadal dysgenesis                     |
 |__46,XY complete gonadal dysgenesis__|
                                       46,XY sex reversal 10  1 rec.
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Is a autosomal dominant disease
chromosomal deletion syndrome
46,XY complete gonadal dysgenesis
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Synonyms
  • "chromosome 17q24 deletion syndrome" EXACT
    "SRXY10" EXACT OMO:0003012
Secondary IDs
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MIM:616425