Disease association ontology term - MONDO:0011629 - MOGS-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0011629
- Name
- MOGS-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
