| Disease ID | Source | Name | Description |
| 300653 | OMIM | Phosphoglycerate kinase 1 deficiency (PGK1D) | A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. The disease is caused by variants affecting the gene represented in this entry. |