From HPO
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Medullary nephrocalcinosis- MedGen UID:
- 588418
- •Concept ID:
- C0403477
- •
- Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
Reduced renal corticomedullary differentiation- MedGen UID:
- 813461
- •Concept ID:
- C3807131
- •
- Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Beta 2-microglobulinuria- MedGen UID:
- 1373797
- •Concept ID:
- C4476798
- •
- Finding
Increased level of beta 2-microglobulins in the urine.
Renal cortical hyperechogenicity- MedGen UID:
- 1770764
- •Concept ID:
- C5421632
- •
- Finding
Increased echogenecity of the kidney cortex.
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).
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Abnormal CNS myelination- MedGen UID:
- 866800
- •Concept ID:
- C4021152
- •
- Anatomical Abnormality
An abnormality of myelination of nerves in the central nervous system.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Legg-Calve-Perthes disease- MedGen UID:
- 730669
- •Concept ID:
- C1442965
- •
- Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality