FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term disorder of sexual development ID (Ontology) DOID:1923 (Human Disease)
Definition A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
Also Known As "sex development disorder" ; "sex differentiation disease"
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Spanning Tree (Parents/Children)
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  endocrine system disease
   |__gonadal disease
       |__disorder of sexual development  46 rec.
           |__androgen insensitivity syndrome 1 rec.
           |   |__complete androgen insensitivity syndrome
           |   |__partial androgen insensitivity syndrome 1 rec.
           |__cryptorchidism 1 rec.
           |__freemartinism
           |__gonadal dysgenesis 39 rec.
           |   |__46 XX gonadal dysgenesis(+) 18 rec.
           |   |__46,XX sex reversal(+) 8 rec.
           |   |__46,XY complete gonadal dysgenesis(+) 12 rec.
           |   |__46,XY gonadal dysgenesis with minifascicular neuropathy 1 rec.
           |   |__mixed gonadal dysgenesis(+)
           |   |__Turner syndrome
           |__gynecomastia
           |__hermaphroditism
           |__hyperandrogenism
           |__methemoglobinemia and ambiguous genitalia 2 rec.
           |__Mullerian aplasia and hyperandrogenism 2 rec.
           |__pseudohermaphroditism 3 rec.
               |__17-beta hydroxysteroid dehydrogenase 3 deficiency 1 rec.
               |__Leydig cell hypoplasia(+) 1 rec.
               |__persistent Mullerian duct syndrome 1 rec.
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Is a gonadal disease
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Synonyms
  • "sex development disorder" EXACT
    "sex differentiation disease" EXACT
Secondary IDs
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MESH:D012734
UMLS_CUI:C0036875