OnlineIMD
CAD trifunctional protein deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CAD
/ Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, and Dihydroorotase
2p23.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Disease group(s)
16.1 Disorders of pyrimidine metabolism