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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease dent disease
Comorbidity C0027709|nephrocalcinosis
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PubMedID- 23334384 Adenine phosphoribosyltransferase (aprt) deficiency, cystinuria, dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (fhhnc), and primary hyperoxaluria (ph) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children.

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