| Dataset | GeneRIF Biological Term Annotations |
| Category | structural or functional annotations |
| Type | biological term |
| 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 | |
| Downloads & Tools |
4 genes co-occuring with the biological term phenylketonuria in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
