NGLY1-congenital disorder of deglycosylation

N-glycanase 1 congenital disorder of deglycosylation (disorder)

active

Code	`768846004`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20180731

Synonyms

Alacrimia, choreoathetosis, liver dysfunction syndrome
Deficiency of N-glycanase 1
N-glycanase 1 congenital disorder of deglycosylation

Parents (2)

85995004Autosomal recessive hereditary disorder disorder
238045003Disorder of glycoprotein metabolism disorder

Children (0)

None (leaf concept).