- TypeGroup
- Disease group(s)
- Child entries
- CAD trifunctional protein deficiency
- Miller syndrome
- Hereditary orotic aciduria
- dUTP pyrophosphatase deficiency
- Thymidylate synthetase deficiency
- Deoxythymidylate kinase deficiency
- CTP synthase 1 deficiency
- Pyrimidine nucleoside transporter deficiency
- Cytosolic pyrimidine 5'-nucleotidase deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Mitochondrial pyrimidine nucleotide carrier deficiency
- Dihydropyrimidinase deficiency
- Beta-ureidopropionase deficiency
- Hyper-beta-aminoisobutyric aciduria
- Hyper-beta-alaninemia