Phenotypes associated with the disease Duplication of urethra (ORPHA:237):
- Epispadias (HP:0000039): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:237)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:237)
- 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: Frequent (HP:0040282). (ORPHA:237)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:237)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Chordee (HP:0000041): A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Septate vagina (HP:0001153): The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Gastroschisis (HP:0001543): A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Penile hypospadias (HP:0003244): Location of the urethral opening on the inferior aspect of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Uterus didelphys (HP:0003762): A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Urinary bladder wall hypertrophy (HP:0008635): Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Distal urethral duplication (HP:0008706). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Coronal hypospadias (HP:0008743): A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Anal fistula (HP:0010447): An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Urethral stricture (HP:0012227): Narrowing of the urethra associated with inflammation or scar tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Unilateral renal hypoplasia (HP:0012583): One sided hypoplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Rectourethral fistula (HP:0025407): An abnormal connection (fistula) between the rectum and the urethra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Bladder duplication (HP:0025489): A congenital anomaly characterized by the presence of two bladders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)
- Anuria (HP:0100519): Absence of urine, clinically classified as below 50ml/day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:237)