From HPO
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Hyperphosphaturia- MedGen UID:
- 78638
- •Concept ID:
- C0268079
- •
- Disease or Syndrome
An increased excretion of phosphates in the urine.
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.
Renal phosphate wasting- MedGen UID:
- 335116
- •Concept ID:
- C1845169
- •
- Finding
High urine phosphate in the presence of hypophosphatemia.
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.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporotic fractures are an important public health problem affecting both sexes. The pathogenesis of osteoporosis is complex and involves both environmental and genetic components. Osteoporotic bone is characterized by decreased bone strength, reflected by a decreased bone mineral density (BMD) and disrupted microarchitecture. Bone is remodeled continuously during adult life, and osteoporosis is typically the result of an imbalance in bone remodeling, with resorption exceeding formation (summary by Tofteng et al., 2007).
See BMND1 (601884) for a list of bone mineral density (BMD) quantitative trait loci, some of which have been associated with susceptibility to osteoporosis. Association has been suggested between variation in the ESR1 gene (133430) and BMD.
Increased susceptibility to fractures- MedGen UID:
- 234655
- •Concept ID:
- C1390474
- •
- Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
The concentration of phosphate ion in the blood circulation is below the lower limit of normal.
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Urogenital tract malformation