Vitamin d-dependent rickets
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| VITAMIN D DEFICIENCY | VDR | Unknown | CTD Disgenet | ||
| VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | CYP27B1 | Unknown | — | CTD HPO | |
| VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | CYP2R1 | Causal | CTD ClinVar Disgenet GWAS catalog HPO | ||
| PDE3B | Unknown | — | Disgenet | ||
| VITAMIN D-DEPENDENT RICKETS | CYP27B1 | Unknown | — | Disgenet | |
| VDR | Unknown | — | Disgenet | ||
| VITAMIN D-DEPENDENT RICKETS TYPE II WITH ALOPECIA |
|
VDR | Causal | — | ClinVar |
| VITAMIN D-DEPENDENT RICKETS, TYPE 1 | CYP27B1 | Causal | — | Disgenet GenCC | |
| CYP2R1 | Causal | — | Disgenet GenCC | ||
| PDE3B | Unknown | — | Disgenet | ||
| VITAMIN D-DEPENDENT RICKETS, TYPE 1A | CYP27B1 | Causal | ClinVar Disgenet | ||
| VITAMIN D-DEPENDENT RICKETS, TYPE 2 | VDR | Unknown | GWAS catalog |