| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (Human Disease Ontology, DOID_9281) |
| Similar Terms | |
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4 genes involed in the disease Phenylketonuria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
