" /> Vitamin D Dependent Rickets 2a - CISMeF





Preferred Label : Vitamin D Dependent Rickets 2a;

NCIt synonyms : Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets with Abnormal Vitamin D Receptor with Alopecia;

NCIt related terms : Vitamin D Receptor Deficiency Rickets; VDDR2a;

NCIt definition : 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.;

Alternative definition : NICHD: 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.;

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24/05/2025


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