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Vitamin D-dependent rickets, type 2A

MONDO:0010186

Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.

Also known as: VDR vitamin D-dependent rickets, type 2, hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia, rickets, vitamin D-resistant, type IIA, vitamin D dependent rickets 2a, vitamin D receptor deficiency rickets, vitamin D-dependent rickets, type 2 caused by mutation in VDR, vitamin D-dependent rickets, type 2A, vitamin d-dependent rickets type II with alopecia

11 clinical trials for this condition and its sub-types, 0 tagged with Vitamin D-dependent rickets, type 2A itself.

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