Phenotypes associated with the disease congenital anomalies of kidney and urinary tract 2 (OMIM:143400):
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/12. (PMID:26235987)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/12. (PMID:26235987)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- 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: PCS. Frequency: 3/12. (PMID:26235987)
- 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: PCS. Frequency: 2/12. (PMID:26235987)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 5/12. (PMID:26235987)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 3/12. (PMID:26235987)
- Congenital megaureter (HP:0008676): A developmental disturbance with extreme ureteral dilatation. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 1/12. (PMID:26235987)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26235987)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 2/12. Onset: Fetal onset (HP:0011461). (PMID:26235987)