syndromic disease 46,XX disorder of sex development-anorectal anomalies syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/46xx_difference_of_sex_development_anorectal_anomalies_syndrome MONDO:0017573 UMLS:C4518078 GARD:0018782 46,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. MEDGEN:1382292 female pseudohermaphroditism-anorectal anomalies syndrome Orphanet:2973 46,XX disorder of sex development