# congenital disorder of glycosylation

> carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids

**Wikidata**: [Q1125675](https://www.wikidata.org/wiki/Q1125675)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation)  
**Source**: https://4ort.xyz/entity/congenital-disorder-of-glycosylation


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. BBC Things
4. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)