From HPO
Focal segmental glomerulosclerosis- MedGen UID:
- 4904
- •Concept ID:
- C0017668
- •
- Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Glycosuria- MedGen UID:
- 42267
- •Concept ID:
- C0017979
- •
- Finding
An increased concentration of glucose in the urine.
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Nephrocalcinosis- MedGen UID:
- 10222
- •Concept ID:
- C0027709
- •
- Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Hyposthenuria- MedGen UID:
- 68565
- •Concept ID:
- C0232831
- •
- Finding
An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Microscopic hematuria- MedGen UID:
- 65997
- •Concept ID:
- C0239937
- •
- Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
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.
Proximal tubulopathy- MedGen UID:
- 326534
- •Concept ID:
- C1839603
- •
- Disease or Syndrome
Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
Low-molecular-weight proteinuria- MedGen UID:
- 333360
- •Concept ID:
- C1839606
- •
- Finding
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
Renal tubular atrophy- MedGen UID:
- 388054
- •Concept ID:
- C1858395
- •
- Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Beta 2-microglobulinuria- MedGen UID:
- 1373797
- •Concept ID:
- C4476798
- •
- Finding
Increased level of beta 2-microglobulins in the urine.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Growth abnormality