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Items: 3

1.

Familial X-linked hypophosphatemic vitamin D refractory rickets

The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. [from GeneReviews]

MedGen UID:
196551
Concept ID:
C0733682
Disease or Syndrome
2.

Hyperphosphatemia

A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum. [from MeSH]

MedGen UID:
39326
Concept ID:
C0085681
Disease or Syndrome
3.

Hypophosphatemia

A condition of an abnormally low level of PHOSPHATES in the blood. [from MeSH]

MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
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