From HPO
Glycosuria- MedGen UID:
- 42267
- •Concept ID:
- C0017979
- •
- Finding
An increased concentration of glucose in the urine.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Abnormality of the kidney- MedGen UID:
- 78593
- •Concept ID:
- C0266292
- •
- Congenital Abnormality
An abnormality of the kidney.
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Atretic vas deferens- MedGen UID:
- 75613
- •Concept ID:
- C0266445
- •
- Congenital Abnormality
Abnormal closure or blockage of the vas deferens.
Kidney stone- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae.
Ureteropelvic junction obstruction- MedGen UID:
- 105482
- •Concept ID:
- C0521619
- •
- Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
Abnormality of the genital system- MedGen UID:
- 155422
- •Concept ID:
- C0744356
- •
- Finding
An abnormality of the genital system.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
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.
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.
Decreased numbers of nephrons- MedGen UID:
- 436031
- •Concept ID:
- C2673888
- •
- Finding
A reduction in the count of nephrons per kidney.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Multiple glomerular cysts- MedGen UID:
- 893156
- •Concept ID:
- C4022013
- •
- Acquired Abnormality
The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.
Reduced sperm motility- MedGen UID:
- 907698
- •Concept ID:
- C4082176
- •
- Finding
An abnormal reduction in the mobility of ejaculated sperm.
Abnormal renal morphology- MedGen UID:
- 1633142
- •Concept ID:
- C4551596
- •
- Anatomical Abnormality
Any structural anomaly of the kidney.
Epididymal cyst- MedGen UID:
- 1778106
- •Concept ID:
- C5442141
- •
- Anatomical Abnormality
A smooth, extratesticular, spherical cyst in the head of the epididymis.
Pancreatic atrophy- MedGen UID:
- 101808
- •Concept ID:
- C0152014
- •
- Pathologic Function
Wasting (shrinking) of the pancreas.
Pancreatic hypoplasia- MedGen UID:
- 539808
- •Concept ID:
- C0266267
- •
- Congenital Abnormality
Hypoplasia of the pancreas.
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Biliary tract abnormality- MedGen UID:
- 108201
- •Concept ID:
- C0549613
- •
- Finding
An abnormality of the biliary tree.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Gout- MedGen UID:
- 42280
- •Concept ID:
- C0018099
- •
- Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Impaired glucose tolerance- MedGen UID:
- 852424
- •Concept ID:
- C0151671
- •
- Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 116013
- •Concept ID:
- C0235996
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Glucose intolerance- MedGen UID:
- 75760
- •Concept ID:
- C0271650
- •
- Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Maturity-onset diabetes of the young- MedGen UID:
- 87433
- •Concept ID:
- C0342276
- •
- Disease or Syndrome
Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
The concentration of uric acid in the blood circulation is above the upper limit of normal.
Abnormality of alkaline phosphatase level- MedGen UID:
- 892397
- •Concept ID:
- C4025328
- •
- Finding
An abnormality of alkaline phosphatase level.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Urogenital tract malformation