46,XX disorder of sex development-anorectal anomalies syndrome
MONDO:001757346,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
Also known as: female pseudohermaphroditism-anorectal anomalies syndrome
13 clinical trials for this condition and its sub-types.
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Disease
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Endocrine system disorder
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Syndromic disease
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Human disease
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Reproductive system disorder
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Developmental defect during embryogenesis
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Disorder of sexual differentiation
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Gonadal disorder
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46,XX disorder of sex development
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