- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Abnormality of the urethra (HP:0000795): An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Abnormal internal genitalia (HP:0000812): An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2973)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2973)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2973)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2973)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2973)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2973)
- Female pseudohermaphroditism (HP:0010458): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2973)
- Displacement of the urethral meatus (HP:0100627): A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2973)
- Urogenital sinus anomaly (HP:0100779): A rare birth defect in women where the urethra and vagina both open into a common channel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2973)
These phenotypes are associated with the disease 46,XX difference of sex development-anorectal anomalies syndrome (ORPHA:2973).