OnlineIMD
Cytosolic pyrimidine 5'-nucleotidase deficiency
Synonym(s)
UMP hydrolase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
NT5C3A
/ 5'-nucleotidase class 3A
7p14.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
5'-nucleotidase class 3A
Disease group(s)
16.1 Disorders of pyrimidine metabolism