Phosphoribosylaminoimidazole carboxylase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- PAICS / Multifunctional Phosphoribosyl Transferase Domain Containing
  4q12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
Disease group(s)
- 16.2 Disorders of purine metabolism