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.;