Disease association ontology term - MONDO:0013789 - DDOST-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0013789
- Name
- DDOST-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
