Congenital disorder of glycosylation type 1j

Congenital disorder of glycosylation type 1j (disorder)

active

Code	`725079003`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20170731

Synonyms

Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type Ij
DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

Parents (2)

85995004Autosomal recessive hereditary disorder disorder
277893002Carbohydrate-deficient glycoprotein syndrome type I disorder

Children (0)

None (leaf concept).