vitamin D–dependent rickets type II

vitamin D–dependent rickets type II
an autosomal recessive disorder similar to type I but with elevated serum concentrations of 1,25-dihydroxyvitamin D. The disorder cannot be overcome by high levels of vitamin D or its metabolites and is caused by end organ refractoriness to the active metabolite, owing to defective receptor binding, absence of the receptors, or post-receptor defects. Multiple variants exist, subdivided as those with or without alopecia.

Medical dictionary. 2011.

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