From HPO
Polycystic kidney disease- MedGen UID:
- 9639
- •Concept ID:
- C0022680
- •
- Disease or Syndrome
The presence of multiple cysts in both kidneys.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Multiple renal cysts- MedGen UID:
- 140917
- •Concept ID:
- C0431718
- •
- Disease or Syndrome
The presence of many cysts in the kidney.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
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.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Dextrocardia- MedGen UID:
- 4255
- •Concept ID:
- C0011813
- •
- Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Situs inversus- MedGen UID:
- 1642262
- •Concept ID:
- C4551493
- •
- Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hepatic cysts- MedGen UID:
- 82761
- •Concept ID:
- C0267834
- •
- Disease or Syndrome
A cystic lesion located in the liver.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Elevated circulating alpha-fetoprotein concentration- MedGen UID:
- 65916
- •Concept ID:
- C0235971
- •
- Finding
Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated gamma-glutamyltransferase level- MedGen UID:
- 1370086
- •Concept ID:
- C4476869
- •
- Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system