| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
| BH4-deficient hyperphenylalaninemia A | PTS* | Pts* | 2 models | Alliance of Genome Resources | ||
| BH4-deficient hyperphenylalaninemia B | GCH1* | Gch1* | 1 model | Alliance of Genome Resources | |||
| BH4-deficient hyperphenylalaninemia C | QDPR* | Qdpr | Alliance of Genome Resources | ||||
| BH4-deficient hyperphenylalaninemia D | PCBD1* | Pcbd1 | Alliance of Genome Resources | ||||