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Disease Information for Hypophosphatemia, familial
- Clinical Manifestations
- Signs & Symptoms
- Acute Motor Weakness
- Diffuse Aches and Pains
- Short stature
- Short stature Child
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
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- Child
- Population/Pediatrics population
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- Population/Child
- Population/Child-Infant Only
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- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Stomatocytosis on Differential smear (Lab)
- Abnormal Lab Findings - Decreased
- Phosphate Serum (Lab)
- Diagnostic Test Results
- X-RAY
- Xray/Delayed cranial ossification in a child/Head
- Xray/Joint abnormal
- Xray/Joint cartilage calcification
- Associated Diseases & Rule outs
- Rule Outs
- Rickets/Vitamin D dependent/familial
- Associated Disease & Complications
- Hypophosphatemia
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Osteoporosis Secondary
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- PROCESS/Biochemical (category)
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- PROCESS/Hereditofamilial (category)
- PROCESS/Metabolic/storage disorder (category)
- Definition
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Familial disorder characterized by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin D.
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- External Links Related to Hypophosphatemia, familial
- Wikipedia
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- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)