Disease ID | Source | Name | Description |
260000 | OMIM | Hyperoxaluria primary 2 (HP2) | A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry. |