Myoadenylate deaminase deficiency

Synonym(s)
- Myoadenylate deaminase deficiency
Type

Disease
External link(s)
- IEMbase
Gene
- AMPD1 / Adenosine Monophosphate Deaminase 1
  1p13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adenosine monophosphate deaminase
Disease group(s)
- 16.2 Disorders of purine metabolism