| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (Human Disease Ontology, DOID_653) |
| Similar Terms | |
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2 genes involed in the disease purine-pyrimidine metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.