| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An urea cycle disorder that involves the accumulation of ammonia in the blood. (Human Disease Ontology, DOID_9273) |
| Similar Terms | |
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2 genes involed in the disease Citrullinemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.