| Disease ID | Source | Name | Description |
| 266120 | OMIM | P5N deficiency (P5ND) | Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. The disease is caused by variants affecting the gene represented in this entry. |