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 ID (Ontology) DOID:0111760 (Human Disease)
Definition A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.
Also Known As "46,XX testicular disorder of sex development" ; "46,XX testicular DSD" ; "De la Chapelle syndrome" (for all, see Synonyms field below)
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  disorder of sexual development
   |__gonadal dysgenesis
       |__46,XX sex reversal  8 rec.
           |__46,XX sex reversal 1 3 rec.
           |__46,XX sex reversal 2 1 rec.
           |__46,XX sex reversal 3
           |__46,XX sex reversal 4 3 rec.
           |__46,XX sex reversal 5 1 rec.
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Is a gonadal dysgenesis
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Synonyms
  • "46,XX testicular disorder of sex development" EXACT
    "46,XX testicular DSD" EXACT
    "De la Chapelle syndrome" EXACT
    "SRXX" EXACT OMO:0003012
    "XX, male syndrome" EXACT
Secondary IDs
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GARD:399
MESH:D058531
ORDO:393