congenital disorder of glycosylation type I
MONDO:0005500Mondo
Findings
No curated finding names congenital disorder of glycosylation type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
Definition from the Mondo Disease Ontology (MONDO:0005500), 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.
- PMM2HGNC:9115
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
Where it sits
- A kind of
- Narrower terms (28)
- 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
- congenital disorder of glycosylation type 1E
- congenital disorder of glycosylation, type IAA
- congenital disorder of glycosylation, type ICC
- congenital muscular dystrophy with intellectual disability and severe epilepsy
- DDOST-congenital disorder of glycosylation
- developmental and epileptic encephalopathy, 36
- developmental and epileptic encephalopathy, 50
- DK1-congenital disorder of glycosylation
- DPAGT1-congenital disorder of glycosylation
Other names
1 name
Resolves to: congenital disorder of glycosylation type I
- Also called
- congenital disorders of glycosylation, type I