UniProtKB/Swiss-Prot

Rickets vitamin D-dependent 1B: A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25- hydroxyvitamin D.

MalaCards based summary

Vitamin D Hydroxylation-Deficient Rickets, Type 1b, also known as rickets due to defect in vitamin d 25-hydroxylation, is related to vitamin d hydroxylation-deficient rickets, type 1a and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1b is CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1). Affiliated tissues include bone and cortex.