Congenital disorder of glycosylation type 1e

Congenital disorder of glycosylation type 1e (disorder)

active

Code	`725078006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20170731

Synonyms

Carbohydrate deficient glycoprotein syndrome type Ie
DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation
Dolichol-phosphate-mannose synthase 1 deficiency

Parents (2)

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

Children (0)

None (leaf concept).