Phenotypes associated with the disease Renal dysplasia (ORPHA:93108):
- 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:93108)
- Functional abnormality of the bladder (HP:0000009): Dysfunction of the urinary bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Abnormal renal tubule morphology (HP:0000091): An abnormality of the renal tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Abnormal renal calyx morphology (HP:0011130): Any abnormality of the morphology of the major calices or minor calices of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Abnormal nephron morphology (HP:0012575): A structural anomaly of the nephron. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93108)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Ureterocele (HP:0000070): A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- 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: Occasional (HP:0040283). (ORPHA:93108)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- 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: Occasional (HP:0040283). (ORPHA:93108)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Ureteral atresia (HP:0005999): A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Ureteral agenesis (HP:0012300): Failure of the ureter to undergo development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Moderate proteinuria (HP:0012596): Moderately increased levels of protein in the urine (500-1000 mg per day in adults). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Flank pain (HP:0030157): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Abdominal mass (HP:0031500): An abnormal enlargement or swelling in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Pelvic mass (HP:0031501): An abnormal enlargement or swelling in the pelvic region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93108)
- Vesicovaginal fistula (HP:0001586): The presence of a fistula connecting the urinary bladder to the vagina. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93108)
- Congenital posterior urethral valve (HP:0010957): A developmental defect resulting in an obstructing membrane in the posterior male urethra. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:93108)