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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypophosphatemic rickets
Comorbidity C0015624|fanconi syndrome
Sentences 2
PubMedID- 24386581 Diagnosis of renal fanconi syndrome presenting with hypophosphatemic rickets was made on the basis of phosphaturia, glycosuria, generalized aminoaciduria, and metabolic acidosis.
PubMedID- 20946626 There is considerable inter- and intra-familial variability in the other manifestations of pt dysfunction, which may cause a renal fanconi syndrome with hypophosphataemic rickets, as well as in the extent of nephrocalcinosis/nephrolithiasis.

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