Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Familial hypophosphatemia, commonly known as
vitamin D-resistant rickets
, is inherited in an x-linked dominant manner. This condition is characterized by impairment of renal tubular reabsorption of inorganic phosphate and is inherited as a sex-linked dominant trait. Early clinical signs, usually detected about two years of age, included lateral bowing of the lower extremities,
scoliosis
, and frontal bossing. Characteristic dental findings are often the first clinically noticeable signs of the disease. This case report describes the typical dental findings in a 10-year old Hispanic female.
...
PMID:Familial hypophosphatemic vitamin D-resistant rickets: review of the literature and report of case. 216 Oct 25
