Vitamin D Dependent Rickets 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia.

**Synonyms:** - Hereditary 1,25 Dihydroxyvitamin D-resistant Rickets with Abnormal Vitamin D Receptor - VDDR2 - Vitamin D Receptor Deficiency