disorder of protein N-glycosylation

Findings

No curated finding names disorder of protein N-glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital disorder of glycosylation
• glycoprotein metabolism disease

Narrower terms (26)

• ALG1-congenital disorder of glycosylation
• ALG11-congenital disorder of glycosylation
• ALG12-congenital disorder of glycosylation
• ALG2-congenital disorder of glycosylation
• ALG3-congenital disorder of glycosylation
• ALG6-congenital disorder of glycosylation 1C
• ALG8-congenital disorder of glycosylation
• ALG9-congenital disorder of glycosylation
• autism spectrum disorder - epilepsy - arthrogryposis syndrome
• congenital disorder of glycosylation type 1EE with or without immunodeficiency
• DDOST-congenital disorder of glycosylation
• developmental and epileptic encephalopathy, 36
• DPAGT1-congenital disorder of glycosylation
• MAN1B1-congenital disorder of glycosylation
• MGAT2-congenital disorder of glycosylation
• MOGS-congenital disorder of glycosylation

Resolves to: disorder of protein N-glycosylation

Also called

disorder of protein N-linked glycosylationprotein N-linked glycosylation disease