Phenotypes associated with the disease Penile agenesis (ORPHA:49):
- Abnormality of the bladder (HP:0000014): An abnormality of the urinary bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Urethral atresia, male (HP:0000052): Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Cystic renal dysplasia (HP:0000800). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- 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:49)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Bilateral lung agenesis (HP:0005944): Bilateral lack of development of the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Urethral fistula (HP:0010480): The presence of an abnormal connection between the urethra and another organ or the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Fetal pyelectasis (HP:0010945): Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49)
- Absent penis (HP:0030261): Lack of recognizable penile structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Unilateral renal hypoplasia (HP:0012583): One sided hypoplasia of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Bilateral renal hypoplasia (HP:0012584): Two sided hypoplasia of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Cloacal abnormality (HP:0012620): A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)
- Rectal fistula (HP:0100590): The presence of a fistula affecting the rectum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49)