- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:654)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:654)
- Abdominal mass (HP:0031500): An abnormal enlargement or swelling in the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:654)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:654)
- Duplication of renal pelvis (HP:0005580): A duplication of the renal pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:654)
- Macroscopic hematuria (HP:0012587): Hematuria that is visible upon inspection of the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:654)
- 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:654)
- 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: Occasional (HP:0040283). (ORPHA:654)
- 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:654)
- 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:654)
- Aniridia (HP:0000526): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Reduced von Willebrand factor activity (HP:0008330): Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Varicocele (HP:0012871): A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Abnormal uterus morphology (HP:0031105): Any anomaly of the structure of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Malaise (HP:0033834): A feeling of general discomfort, weakness, or lack of health. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:654)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:654)
These phenotypes are associated with the disease Nephroblastoma (ORPHA:654).