Hypophosphatemic vitamin d refractory rickets, x-linked
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hypophosphatemic Rickets, X-Linked Recessive | C1845168 | CLCN5 | Causal Pathogenic evidence from ClinVar | 8559248, 9187673, 21305656, 23886564 | ClinVar |
| PHEX | Causal Pathogenic evidence from ClinVar | 3414685, 11414762, 18775977 | ClinVar | ||
| Autosomal recessive hypophosphatemic vitamin D refractory rickets | C0342643 | DMP1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| ENPP1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |