Disease association ontology term - MONDO:0011933 - ALG2-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0011933
- Name
- ALG2-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
