Disease association ontology term - MONDO:0003947 - hyper-IgM syndrome
Term summary
- ID
- MONDO:0003947
- Name
- hyper-IgM syndrome
- Ontology or CV name
- Disease association
- Definition
- A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
