- Abnormal clitoris morphology (HP:0000056): Any structural abnormality of the clitoris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Ureterocele (HP:0000070): A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Ectopic kidney (HP:0000086): A developmental defect in which a kidney is located in an abnormal anatomic position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- 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: Frequent (HP:0040282). (ORPHA:93929)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Bladder exstrophy (HP:0002836): Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Cloacal exstrophy (HP:0010475): Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93929)
- Abnormal fallopian tube morphology (HP:0011027): An abnormality of the fallopian tube. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93929)
- Absent foot (HP:0011301): The total absence of the foot, with no bony elements distal to the tibia or fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
- Intestinal duplication (HP:0100668): A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93929)
These phenotypes are associated with the disease Cloacal exstrophy (ORPHA:93929).