Vitamin d-dependent rickets
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Vitamin D-Resistant Rickets, X-Linked | C3536984 | CLCN5 | |
| PHEX | 18775977, 3414685, 19242361, 11414762 | ||
| Vitamin D-dependent rickets, type 1 | C0268689 | CYP27B1 | 10518789, 22443290, 25284246, 12050193, 21700898, 30282619, 11737215, 9486994, 9837822, 10320521, 23423976, 10566658 |
| CYP2R1 | |||
| Vitamin D-Dependent Rickets, Type 2A | C0342646 | VDR | 2558018, 1652893, 28698609, 8106618, 9005998, 2849209, 2177843, 17970811, 7828346, 8961271, 8381803, 8675579, 8392085 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B | C1838657 | CYP2R1 | 25942481, 27716192, 15128933 |