FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 46,XX sex reversal 2 ID (Ontology) DOID:0111763 (Human Disease)
Definition A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.
Also Known As "chromosome 17q24 duplication syndrome" ; "SRXX2"
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 Genes
 46,XX sex reversal 2       1
 for disease ribbon | 46,XX sex reversal 2       1
 model of | 46,XX sex reversal 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
gonadal dysgenesis              |
 |__46,XX sex reversal__________|
                                46,XX sex reversal 2  1 rec.
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Is a autosomal dominant disease
46,XX sex reversal
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Synonyms
  • "chromosome 17q24 duplication syndrome" EXACT
    "SRXX2" EXACT OMO:0003012
Secondary IDs
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MIM:278850