| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. (Human Phenotype Ontology, HP_0100610) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0100610 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the maternal hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| PAH | phenylalanine hydroxylase |
