congenital disorder of glycosylation type II
MONDO:0005501Mondo
Findings
No curated finding names congenital disorder of glycosylation type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
Definition from the Mondo Disease Ontology (MONDO:0005501), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- ATP6AP1HGNC:868
- Definitive · ClinGen · X-linked · 2024
Where it sits
- A kind of
- Narrower terms (26)
- B4GALT1-congenital disorder of glycosylation
- CCDC115-CDG
- COG1-congenital disorder of glycosylation
- COG4-congenital disorder of glycosylation
- COG5-congenital disorder of glycosylation
- COG6-congenital disorder of glycosylation
- COG7-congenital disorder of glycosylation
- COG8-congenital disorder of glycosylation
- congenital disorder of glycosylation, type 2v
- congenital disorder of glycosylation, type IIaa
- congenital disorder of glycosylation, type IIbb
- congenital disorder of glycosylation, type IIcc
- congenital disorder of glycosylation, type IIq
- congenital disorder of glycosylation, type IIr
- congenital disorder of glycosylation, type iit
- congenital disorder of glycosylation, type IIw
- congenital disorder of glycosylation, type IIy
Other names
1 name
Resolves to: congenital disorder of glycosylation type II
- Also called
- congenital disorders of glycosylation, type II