- TypeGroup
- Disease group(s)
- Child entries
- PRPS1-related disease
- Phosphoribosylaminoimidazole carboxylase deficiency
- Adenylosuccinate lyase deficiency
- AICAR transformylase/IMP cyclohydrolase deficiency
- Myoadenylate deaminase deficiency
- Adenosine monophosphate deaminase 2 deficiency
- Erythrocyte adenosine monophosphate deaminase 3 deficiency
- Adenosine kinase deficiency
- Adenosine deaminase 1 deficiency
- Adenosine deaminase 2 deficiency
- 21.10 Disorders of molybdenum cofactor metabolism
- Purine nucleoside phosphorylase deficiency
- FAMIN deficiency
- Xanthine oxidase deficiency
- Lesch-Nyhan syndrome
- Adenine phosphoribosyltransferase deficiency
- Adenylate kinase 1 deficiency
- Adenylate kinase 2 deficiency
- Adenylate kinase 7 deficiency
- Adenylosuccinate synthase-like 1 deficiency
- Inosine-5'-monophosphate dehydrogenase deficiency
- Inosine-5'-monophosphate dehydrogenase type 2 deficiency
- Thiopurine methyltransferase deficiency
- NUDT15 deficiency
- Inosine triphosphatase deficiency
- Hereditary renal hypouricemia